Mercurial > repos > iuc > cnv_vcf2json
changeset 1:7d2d2e3b9891 draft default tip
planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/cnv-vcf2json commit 7b5c842d3c006d2afd00aff1ef833f236a45dd3d
author | iuc |
---|---|
date | Wed, 24 Jul 2024 12:56:03 +0000 |
parents | c8caf812d33b |
children | |
files | cnv-vcf2json.xml macros.xml test-data/output.json |
diffstat | 3 files changed, 7868 insertions(+), 3729 deletions(-) [+] |
line wrap: on
line diff
--- a/cnv-vcf2json.xml Fri Mar 01 07:19:35 2024 +0000 +++ b/cnv-vcf2json.xml Wed Jul 24 12:56:03 2024 +0000 @@ -21,7 +21,9 @@ <tests> <test expect_num_outputs="1"> <param name="input_vcf_file" ftype="vcf" value="HG00096.cnv.vcf" /> - <output name="output_json" file="output.json" /> + <output name="output_json" file="output.json" ftype="json" compare="sim_size" > + <assert_contents><has_size value="356000" delta="20000" /></assert_contents> + </output> </test> </tests> <help><![CDATA[
--- a/macros.xml Fri Mar 01 07:19:35 2024 +0000 +++ b/macros.xml Wed Jul 24 12:56:03 2024 +0000 @@ -1,6 +1,6 @@ <macros> - <token name="@VERSION_SUFFIX@">0</token> - <token name="@TOOL_VERSION@">1.0.4</token> + <token name="@VERSION_SUFFIX@">0.1</token> + <token name="@TOOL_VERSION@">1.1.0</token> <xml name="requirements"> <requirements> <requirement type="package" version="@TOOL_VERSION@">cnv-vcf2json</requirement>
--- a/test-data/output.json Fri Mar 01 07:19:35 2024 +0000 +++ b/test-data/output.json Wed Jul 24 12:56:03 2024 +0000 @@ -3,8865 +3,13002 @@ "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:2650427-2651463:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 2650427, - "end": 2651463, - "referenceName": "1", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 2650427, + "end": 2651463, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:2650428-2651463", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.692461" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:2651463-2653075:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 2651463, - "end": 2653075, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 2651463, + "end": 2653075, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:2651464-2653075", "cnCount": 1, "cnValue": 0.395524 - } + }, + "updated": "2024-07-24T09:24:38.692482" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:4063594-4067475:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 4063594, - "end": 4067475, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 4063594, + "end": 4067475, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:4063595-4067475", "cnCount": 1, "cnValue": 0.429788 - } + }, + "updated": "2024-07-24T09:24:38.692495" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:6377770-6385660:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 6377770, - "end": 6385660, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 6377770, + "end": 6385660, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:6377771-6385660", "cnCount": 1, "cnValue": 0.543097 - } + }, + "updated": "2024-07-24T09:24:38.692503" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:8143311-8150440:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 8143311, - "end": 8150440, - "referenceName": "1", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 8143311, + "end": 8150440, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr1:8143312-8150440", "cnCount": 3, "cnValue": 1.42495 - } + }, + "updated": "2024-07-24T09:24:38.692512" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:13224579-13242034:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 13224579, - "end": 13242034, - "referenceName": "1", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 13224579, + "end": 13242034, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr1:13224580-13242034", "cnCount": 3, "cnValue": 1.49181 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr1:16605061-16646293:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 16605061, - "end": 16646293, - "referenceName": "1", + }, + "updated": "2024-07-24T09:24:38.692520" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr1:16605061-16646293:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 16605061, + "end": 16646293, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr1:16605062-16646293", "cnCount": 7, "cnValue": 3.3289 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr1:16716711-16728256:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 16716711, - "end": 16728256, - "referenceName": "1", + }, + "updated": "2024-07-24T09:24:38.692529" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr1:16716711-16728256:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 16716711, + "end": 16728256, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr1:16716712-16728256", "cnCount": 5, "cnValue": 2.68822 - } + }, + "updated": "2024-07-24T09:24:38.692539" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:16879751-16950196:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 16879751, - "end": 16950196, - "referenceName": "1", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 16879751, + "end": 16950196, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr1:16879752-16950196", "cnCount": 3, "cnValue": 1.53152 - } + }, + "updated": "2024-07-24T09:24:38.692546" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:34636777-34646300:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 34636777, - "end": 34646300, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 34636777, + "end": 34646300, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:34636778-34646300", "cnCount": 1, "cnValue": 0.495288 - } + }, + "updated": "2024-07-24T09:24:38.692554" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:36957723-36960386:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 36957723, - "end": 36960386, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 36957723, + "end": 36960386, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:36957724-36960386", "cnCount": 1, "cnValue": 0.479029 - } + }, + "updated": "2024-07-24T09:24:38.692561" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:43593157-43594353:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 43593157, - "end": 43594353, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 43593157, + "end": 43594353, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:43593158-43594353", "cnCount": 1, "cnValue": 0.289679 - } + }, + "updated": "2024-07-24T09:24:38.692568" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:58278107-58279217:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 58278107, - "end": 58279217, - "referenceName": "1", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 58278107, + "end": 58279217, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:58278108-58279217", "cnCount": 0, "cnValue": 0.0937719 - } + }, + "updated": "2024-07-24T09:24:38.692575" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:61647700-61655464:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 61647700, - "end": 61655464, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 61647700, + "end": 61655464, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:61647701-61655464", "cnCount": 1, "cnValue": 0.52381 - } + }, + "updated": "2024-07-24T09:24:38.692589" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:62188614-62191346:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 62188614, - "end": 62191346, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 62188614, + "end": 62191346, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:62188615-62191346", "cnCount": 1, "cnValue": 0.483858 - } + }, + "updated": "2024-07-24T09:24:38.692597" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:67542030-67543275:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 67542030, - "end": 67543275, - "referenceName": "1", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 67542030, + "end": 67543275, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:67542031-67543275", "cnCount": 0, "cnValue": 0.0312573 - } + }, + "updated": "2024-07-24T09:24:38.692603" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:72289205-72345923:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 72289205, - "end": 72345923, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 72289205, + "end": 72345923, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:72289206-72345923", "cnCount": 1, "cnValue": 0.486641 - } + }, + "updated": "2024-07-24T09:24:38.692610" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:78183859-78192785:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 78183859, - "end": 78192785, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 78183859, + "end": 78192785, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:78183860-78192785", "cnCount": 1, "cnValue": 0.482922 - } + }, + "updated": "2024-07-24T09:24:38.692617" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:89010497-89012783:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 89010497, - "end": 89012783, - "referenceName": "1", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 89010497, + "end": 89012783, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:89010498-89012783", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.692624" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:103362730-103365638:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 103362730, - "end": 103365638, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 103362730, + "end": 103365638, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:103362731-103365638", "cnCount": 1, "cnValue": 0.320331 - } + }, + "updated": "2024-07-24T09:24:38.692634" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:105472899-105480377:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 105472899, - "end": 105480377, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 105472899, + "end": 105480377, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:105472900-105480377", "cnCount": 1, "cnValue": 0.450727 - } + }, + "updated": "2024-07-24T09:24:38.692641" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:109644578-109647981:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 109644578, - "end": 109647981, - "referenceName": "1", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 109644578, + "end": 109647981, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:109644579-109647981", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.692650" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:109647981-109650349:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 109647981, - "end": 109650349, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 109647981, + "end": 109650349, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:109647982-109650349", "cnCount": 1, "cnValue": 0.587163 - } + }, + "updated": "2024-07-24T09:24:38.692657" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:109687569-109697444:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 109687569, - "end": 109697444, - "referenceName": "1", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 109687569, + "end": 109697444, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:109687570-109697444", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.692664" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:112148880-112161897:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 112148880, - "end": 112161897, - "referenceName": "1", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 112148880, + "end": 112161897, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:112148881-112161897", "cnCount": 0, "cnValue": 1.00369e-09 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr1:125073511-125084673:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 125073511, - "end": 125084673, - "referenceName": "1", + }, + "updated": "2024-07-24T09:24:38.692671" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr1:125073511-125084673:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 125073511, + "end": 125084673, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr1:125073512-125084673", "cnCount": 5, "cnValue": 2.35809 - } + }, + "updated": "2024-07-24T09:24:38.692684" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:125084673-125170990:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 125084673, - "end": 125170990, - "referenceName": "1", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 125084673, + "end": 125170990, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr1:125084674-125170990", "cnCount": 3, "cnValue": 1.23145 - } + }, + "updated": "2024-07-24T09:24:38.692695" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:152787112-152798062:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 152787112, - "end": 152798062, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 152787112, + "end": 152798062, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:152787113-152798062", "cnCount": 1, "cnValue": 0.551573 - } + }, + "updated": "2024-07-24T09:24:38.692702" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:153704054-153710046:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 153704054, - "end": 153710046, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 153704054, + "end": 153710046, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:153704055-153710046", "cnCount": 1, "cnValue": 0.56922 - } + }, + "updated": "2024-07-24T09:24:38.692709" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:153710046-153720849:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 153710046, - "end": 153720849, - "referenceName": "1", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 153710046, + "end": 153720849, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:153710047-153720849", "cnCount": 0, "cnValue": 0.124785 - } + }, + "updated": "2024-07-24T09:24:38.692716" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:155215381-155216788:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 155215381, - "end": 155216788, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 155215381, + "end": 155216788, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:155215382-155216788", "cnCount": 1, "cnValue": 0.384402 - } + }, + "updated": "2024-07-24T09:24:38.692722" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:155216788-155223806:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 155216788, - "end": 155223806, - "referenceName": "1", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 155216788, + "end": 155223806, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:155216789-155223806", "cnCount": 0, "cnValue": 0.0156287 - } + }, + "updated": "2024-07-24T09:24:38.692732" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:155223806-155231422:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 155223806, - "end": 155231422, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 155223806, + "end": 155231422, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:155223807-155231422", "cnCount": 1, "cnValue": 0.414656 - } + }, + "updated": "2024-07-24T09:24:38.692738" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:158896863-158899865:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 158896863, - "end": 158899865, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 158896863, + "end": 158899865, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:158896864-158899865", "cnCount": 1, "cnValue": 0.486641 - } + }, + "updated": "2024-07-24T09:24:38.692745" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:158991236-158997459:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 158991236, - "end": 158997459, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 158991236, + "end": 158997459, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:158991237-158997459", "cnCount": 1, "cnValue": 0.515117 - } + }, + "updated": "2024-07-24T09:24:38.692761" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:159678775-159679775:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 159678775, - "end": 159679775, - "referenceName": "1", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 159678775, + "end": 159679775, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:159678776-159679775", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.692771" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:169257792-169273435:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 169257792, - "end": 169273435, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 169257792, + "end": 169273435, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:169257793-169273435", "cnCount": 1, "cnValue": 0.507502 - } + }, + "updated": "2024-07-24T09:24:38.692781" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:187746960-187753279:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 187746960, - "end": 187753279, - "referenceName": "1", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 187746960, + "end": 187753279, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:187746961-187753279", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.692790" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:188569503-188571503:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 188569503, - "end": 188571503, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 188569503, + "end": 188571503, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:188569504-188571503", "cnCount": 1, "cnValue": 0.407842 - } + }, + "updated": "2024-07-24T09:24:38.692797" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:199139968-199144173:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 199139968, - "end": 199144173, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 199139968, + "end": 199144173, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:199139969-199144173", "cnCount": 1, "cnValue": 0.460582 - } + }, + "updated": "2024-07-24T09:24:38.692807" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:206052349-206059493:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 206052349, - "end": 206059493, - "referenceName": "1", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 206052349, + "end": 206059493, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr1:206052350-206059493", "cnCount": 4, "cnValue": 2.03173 - } + }, + "updated": "2024-07-24T09:24:38.692814" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:207117914-207120102:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 207117914, - "end": 207120102, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 207117914, + "end": 207120102, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:207117915-207120102", "cnCount": 1, "cnValue": 0.422162 - } + }, + "updated": "2024-07-24T09:24:38.692821" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:207368388-207372031:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 207368388, - "end": 207372031, - "referenceName": "1", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 207368388, + "end": 207372031, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:207368389-207372031", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.692827" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:209903979-209905088:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 209903979, - "end": 209905088, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 209903979, + "end": 209905088, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:209903980-209905088", "cnCount": 1, "cnValue": 0.346094 - } + }, + "updated": "2024-07-24T09:24:38.692836" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:209905088-209912266:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 209905088, - "end": 209912266, - "referenceName": "1", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 209905088, + "end": 209912266, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:209905089-209912266", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.692846" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:212828042-212839826:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 212828042, - "end": 212839826, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 212828042, + "end": 212839826, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:212828043-212839826", "cnCount": 1, "cnValue": 0.554817 - } + }, + "updated": "2024-07-24T09:24:38.692855" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:222199700-222207336:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 222199700, - "end": 222207336, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 222199700, + "end": 222207336, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:222199701-222207336", "cnCount": 1, "cnValue": 0.539263 - } + }, + "updated": "2024-07-24T09:24:38.692862" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:228066859-228072120:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 228066859, - "end": 228072120, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 228066859, + "end": 228072120, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:228066860-228072120", "cnCount": 1, "cnValue": 0.561819 - } + }, + "updated": "2024-07-24T09:24:38.692871" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:234396664-234397668:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 234396664, - "end": 234397668, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 234396664, + "end": 234397668, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:234396665-234397668", "cnCount": 1, "cnValue": 0.254353 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr1:234776261-234784001:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 234776261, - "end": 234784001, - "referenceName": "1", + }, + "updated": "2024-07-24T09:24:38.692878" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr1:234776261-234784001:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 234776261, + "end": 234784001, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr1:234776262-234784001", "cnCount": 6, "cnValue": 2.84606 - } + }, + "updated": "2024-07-24T09:24:38.692888" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr1:243618689-243620819:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 243618689, - "end": 243620819, - "referenceName": "1", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 243618689, + "end": 243620819, + "chromosome": "1" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr1:243618690-243620819", "cnCount": 1, "cnValue": 0.422353 - } + }, + "updated": "2024-07-24T09:24:38.692894" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:1521263-1526639:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 1521263, - "end": 1526639, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 1521263, + "end": 1526639, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:1521264-1526639", "cnCount": 1, "cnValue": 0.600555 - } + }, + "updated": "2024-07-24T09:24:38.692901" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:1526639-1530068:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 1526639, - "end": 1530068, - "referenceName": "2", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 1526639, + "end": 1530068, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr2:1526640-1530068", "cnCount": 3, "cnValue": 1.30002 - } + }, + "updated": "2024-07-24T09:24:38.692911" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:1530068-1538436:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 1530068, - "end": 1538436, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 1530068, + "end": 1538436, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:1530069-1538436", "cnCount": 1, "cnValue": 0.462767 - } + }, + "updated": "2024-07-24T09:24:38.692918" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:6552853-6568025:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 6552853, - "end": 6568025, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 6552853, + "end": 6568025, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:6552854-6568025", "cnCount": 1, "cnValue": 0.499019 - } + }, + "updated": "2024-07-24T09:24:38.692925" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:16127901-16132156:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 16127901, - "end": 16132156, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 16127901, + "end": 16132156, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:16127902-16132156", "cnCount": 1, "cnValue": 0.701723 - } + }, + "updated": "2024-07-24T09:24:38.692934" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:16132156-16133351:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 16132156, - "end": 16133351, - "referenceName": "2", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 16132156, + "end": 16133351, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:16132157-16133351", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.692942" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:16142956-16148405:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 16142956, - "end": 16148405, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 16142956, + "end": 16148405, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:16142957-16148405", "cnCount": 1, "cnValue": 0.381263 - } + }, + "updated": "2024-07-24T09:24:38.692949" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:17403773-17409523:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 17403773, - "end": 17409523, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 17403773, + "end": 17409523, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:17403774-17409523", "cnCount": 1, "cnValue": 0.649776 - } + }, + "updated": "2024-07-24T09:24:38.692959" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:33539548-33543048:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 33539548, - "end": 33543048, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 33539548, + "end": 33543048, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:33539549-33543048", "cnCount": 1, "cnValue": 0.659993 - } + }, + "updated": "2024-07-24T09:24:38.692966" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:34298347-34301046:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 34298347, - "end": 34301046, - "referenceName": "2", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 34298347, + "end": 34301046, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:34298348-34301046", "cnCount": 0, "cnValue": 0.0562937 - } + }, + "updated": "2024-07-24T09:24:38.692973" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:35751659-35766737:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 35751659, - "end": 35766737, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 35751659, + "end": 35766737, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:35751660-35766737", "cnCount": 1, "cnValue": 0.517034 - } + }, + "updated": "2024-07-24T09:24:38.692982" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:38727285-38744852:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 38727285, - "end": 38744852, - "referenceName": "2", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 38727285, + "end": 38744852, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr2:38727286-38744852", "cnCount": 3, "cnValue": 1.56503 - } + }, + "updated": "2024-07-24T09:24:38.692989" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:52522265-52557269:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 52522265, - "end": 52557269, - "referenceName": "2", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 52522265, + "end": 52557269, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:52522266-52557269", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.692996" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:52557269-52558269:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 52557269, - "end": 52558269, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 52557269, + "end": 52558269, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:52557270-52558269", "cnCount": 1, "cnValue": 0.265607 - } + }, + "updated": "2024-07-24T09:24:38.693003" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:56427460-56428460:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 56427460, - "end": 56428460, - "referenceName": "2", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 56427460, + "end": 56428460, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:56427461-56428460", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.693012" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:64467431-64477781:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 64467431, - "end": 64477781, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 64467431, + "end": 64477781, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:64467432-64477781", "cnCount": 1, "cnValue": 0.555219 - } + }, + "updated": "2024-07-24T09:24:38.693019" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:76069964-76071178:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 76069964, - "end": 76071178, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 76069964, + "end": 76071178, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:76069965-76071178", "cnCount": 1, "cnValue": 0.19892 - } + }, + "updated": "2024-07-24T09:24:38.693031" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:84891585-84893731:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 84891585, - "end": 84893731, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 84891585, + "end": 84893731, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:84891586-84893731", "cnCount": 1, "cnValue": 0.446769 - } + }, + "updated": "2024-07-24T09:24:38.693038" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:88832905-89004489:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 88832905, - "end": 89004489, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 88832905, + "end": 89004489, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:88832906-89004489", "cnCount": 1, "cnValue": 0.351765 - } + }, + "updated": "2024-07-24T09:24:38.693047" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:89144122-89209966:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 89144122, - "end": 89209966, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 89144122, + "end": 89209966, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:89144123-89209966", "cnCount": 1, "cnValue": 0.661085 - } + }, + "updated": "2024-07-24T09:24:38.693056" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:89760630-89814166:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 89760630, - "end": 89814166, - "referenceName": "2", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 89760630, + "end": 89814166, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr2:89760631-89814166", "cnCount": 4, "cnValue": 1.89949 - } + }, + "updated": "2024-07-24T09:24:38.693067" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:89814166-89817903:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 89814166, - "end": 89817903, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 89814166, + "end": 89817903, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:89814167-89817903", "cnCount": 1, "cnValue": 0.515117 - } + }, + "updated": "2024-07-24T09:24:38.693077" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:89817903-89851409:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 89817903, - "end": 89851409, - "referenceName": "2", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 89817903, + "end": 89851409, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr2:89817904-89851409", "cnCount": 4, "cnValue": 1.94047 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr2:90390369-90398551:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 90390369, - "end": 90398551, - "referenceName": "2", + }, + "updated": "2024-07-24T09:24:38.693167" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr2:90390369-90398551:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 90390369, + "end": 90398551, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr2:90390370-90398551", "cnCount": 55, "cnValue": 27.6755 - } + }, + "updated": "2024-07-24T09:24:38.693179" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:91407826-91415876:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 91407826, - "end": 91415876, - "referenceName": "2", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 91407826, + "end": 91415876, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr2:91407827-91415876", "cnCount": 4, "cnValue": 1.91961 - } + }, + "updated": "2024-07-24T09:24:38.693188" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:106076541-106080702:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 106076541, - "end": 106080702, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 106076541, + "end": 106080702, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:106076542-106080702", "cnCount": 1, "cnValue": 0.673357 - } + }, + "updated": "2024-07-24T09:24:38.693196" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:106261948-106268884:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 106261948, - "end": 106268884, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 106261948, + "end": 106268884, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:106261949-106268884", "cnCount": 1, "cnValue": 0.502343 - } + }, + "updated": "2024-07-24T09:24:38.693204" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:122719940-122725575:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 122719940, - "end": 122725575, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 122719940, + "end": 122725575, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:122719941-122725575", "cnCount": 1, "cnValue": 0.460317 - } + }, + "updated": "2024-07-24T09:24:38.693211" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:125685500-125694644:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 125685500, - "end": 125694644, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 125685500, + "end": 125694644, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:125685501-125694644", "cnCount": 1, "cnValue": 0.486641 - } + }, + "updated": "2024-07-24T09:24:38.693219" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:126916599-126919599:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 126916599, - "end": 126919599, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 126916599, + "end": 126919599, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:126916600-126919599", "cnCount": 1, "cnValue": 0.57826 - } + }, + "updated": "2024-07-24T09:24:38.693226" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:132242819-132247567:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 132242819, - "end": 132247567, - "referenceName": "2", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 132242819, + "end": 132247567, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr2:132242820-132247567", "cnCount": 3, "cnValue": 1.51316 - } + }, + "updated": "2024-07-24T09:24:38.693234" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:136345151-136347597:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 136345151, - "end": 136347597, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 136345151, + "end": 136347597, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:136345152-136347597", "cnCount": 1, "cnValue": 0.467645 - } + }, + "updated": "2024-07-24T09:24:38.693241" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:146104735-146118947:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 146104735, - "end": 146118947, - "referenceName": "2", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 146104735, + "end": 146118947, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:146104736-146118947", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.693249" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:159102037-159105616:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 159102037, - "end": 159105616, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 159102037, + "end": 159105616, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:159102038-159105616", "cnCount": 1, "cnValue": 0.336107 - } + }, + "updated": "2024-07-24T09:24:38.693256" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:161475965-161477369:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 161475965, - "end": 161477369, - "referenceName": "2", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 161475965, + "end": 161477369, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:161475966-161477369", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.693263" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:176400254-176401254:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 176400254, - "end": 176401254, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 176400254, + "end": 176401254, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:176400255-176401254", "cnCount": 1, "cnValue": 0.291985 - } + }, + "updated": "2024-07-24T09:24:38.693270" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:176401254-176407637:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 176401254, - "end": 176407637, - "referenceName": "2", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 176401254, + "end": 176407637, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:176401255-176407637", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.693280" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:193824929-193830261:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 193824929, - "end": 193830261, - "referenceName": "2", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 193824929, + "end": 193830261, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:193824930-193830261", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.693287" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:197890596-197897093:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 197890596, - "end": 197897093, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 197890596, + "end": 197897093, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:197890597-197897093", "cnCount": 1, "cnValue": 0.686603 - } + }, + "updated": "2024-07-24T09:24:38.693295" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:205249432-205256941:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 205249432, - "end": 205256941, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 205249432, + "end": 205256941, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:205249433-205256941", "cnCount": 1, "cnValue": 0.515117 - } + }, + "updated": "2024-07-24T09:24:38.693314" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:205262973-205264973:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 205262973, - "end": 205264973, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 205262973, + "end": 205264973, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:205262974-205264973", "cnCount": 1, "cnValue": 0.480721 - } + }, + "updated": "2024-07-24T09:24:38.693338" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:219187674-219190865:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 219187674, - "end": 219190865, - "referenceName": "2", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 219187674, + "end": 219190865, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:219187675-219190865", "cnCount": 0, "cnValue": 4.78728e-06 - } + }, + "updated": "2024-07-24T09:24:38.693346" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:220703321-220710729:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 220703321, - "end": 220710729, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 220703321, + "end": 220710729, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:220703322-220710729", "cnCount": 1, "cnValue": 0.713741 - } + }, + "updated": "2024-07-24T09:24:38.693356" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr2:237644761-237651120:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 237644761, - "end": 237651120, - "referenceName": "2", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 237644761, + "end": 237651120, + "chromosome": "2" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr2:237644762-237651120", "cnCount": 1, "cnValue": 0.546854 - } + }, + "updated": "2024-07-24T09:24:38.693363" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:186614-192149:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 186614, - "end": 192149, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 186614, + "end": 192149, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:186615-192149", "cnCount": 1, "cnValue": 0.474873 - } + }, + "updated": "2024-07-24T09:24:38.693370" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:6608253-6612327:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 6608253, - "end": 6612327, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 6608253, + "end": 6612327, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:6608254-6612327", "cnCount": 1, "cnValue": 0.515516 - } + }, + "updated": "2024-07-24T09:24:38.693380" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:16197555-16199555:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 16197555, - "end": 16199555, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 16197555, + "end": 16199555, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:16197556-16199555", "cnCount": 1, "cnValue": 0.400956 - } + }, + "updated": "2024-07-24T09:24:38.693387" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:26391521-26397904:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 26391521, - "end": 26397904, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 26391521, + "end": 26397904, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:26391522-26397904", "cnCount": 1, "cnValue": 0.529576 - } + }, + "updated": "2024-07-24T09:24:38.693397" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:32059847-32066659:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 32059847, - "end": 32066659, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 32059847, + "end": 32066659, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:32059848-32066659", "cnCount": 1, "cnValue": 0.523035 - } + }, + "updated": "2024-07-24T09:24:38.693407" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:49604237-49606959:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 49604237, - "end": 49606959, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 49604237, + "end": 49606959, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:49604238-49606959", "cnCount": 1, "cnValue": 0.571042 - } + }, + "updated": "2024-07-24T09:24:38.693414" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:52992907-53004741:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 52992907, - "end": 53004741, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 52992907, + "end": 53004741, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:52992908-53004741", "cnCount": 1, "cnValue": 0.521442 - } + }, + "updated": "2024-07-24T09:24:38.693421" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:68586656-68591117:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 68586656, - "end": 68591117, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 68586656, + "end": 68591117, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:68586657-68591117", "cnCount": 1, "cnValue": 0.512013 - } + }, + "updated": "2024-07-24T09:24:38.693428" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:68689993-68698497:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 68689993, - "end": 68698497, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 68689993, + "end": 68698497, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:68689994-68698497", "cnCount": 1, "cnValue": 0.504832 - } + }, + "updated": "2024-07-24T09:24:38.693435" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:75375220-75593491:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 75375220, - "end": 75593491, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 75375220, + "end": 75593491, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:75375221-75593491", "cnCount": 1, "cnValue": 0.476674 - } + }, + "updated": "2024-07-24T09:24:38.693444" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:75687411-75707542:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 75687411, - "end": 75707542, - "referenceName": "3", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 75687411, + "end": 75707542, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr3:75687412-75707542", "cnCount": 3, "cnValue": 1.59195 - } + }, + "updated": "2024-07-24T09:24:38.693454" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:75736180-75738957:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 75736180, - "end": 75738957, - "referenceName": "3", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 75736180, + "end": 75738957, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr3:75736181-75738957", "cnCount": 4, "cnValue": 1.76308 - } + }, + "updated": "2024-07-24T09:24:38.693461" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:80012043-80015227:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 80012043, - "end": 80015227, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 80012043, + "end": 80015227, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:80012044-80015227", "cnCount": 1, "cnValue": 0.539263 - } + }, + "updated": "2024-07-24T09:24:38.693473" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:84055389-84058391:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 84055389, - "end": 84058391, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 84055389, + "end": 84058391, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:84055390-84058391", "cnCount": 1, "cnValue": 0.507068 - } + }, + "updated": "2024-07-24T09:24:38.693480" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:90536015-90538708:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 90536015, - "end": 90538708, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 90536015, + "end": 90538708, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:90536016-90538708", "cnCount": 1, "cnValue": 0.404682 - } + }, + "updated": "2024-07-24T09:24:38.693489" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:90560516-90563765:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 90560516, - "end": 90563765, - "referenceName": "3", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 90560516, + "end": 90563765, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr3:90560517-90563765", "cnCount": 4, "cnValue": 1.98103 - } + }, + "updated": "2024-07-24T09:24:38.693496" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:98690951-98695839:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 98690951, - "end": 98695839, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 98690951, + "end": 98695839, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:98690952-98695839", "cnCount": 1, "cnValue": 0.604545 - } + }, + "updated": "2024-07-24T09:24:38.693506" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:99179614-99180682:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 99179614, - "end": 99180682, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 99179614, + "end": 99180682, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:99179615-99180682", "cnCount": 1, "cnValue": 0.233412 - } + }, + "updated": "2024-07-24T09:24:38.693512" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:99180682-99182728:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 99180682, - "end": 99182728, - "referenceName": "3", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 99180682, + "end": 99182728, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:99180683-99182728", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.693519" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:99182728-99184062:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 99182728, - "end": 99184062, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 99182728, + "end": 99184062, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:99182729-99184062", "cnCount": 1, "cnValue": 0.328202 - } + }, + "updated": "2024-07-24T09:24:38.693529" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:99909240-99912240:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 99909240, - "end": 99912240, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 99909240, + "end": 99912240, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:99909241-99912240", "cnCount": 1, "cnValue": 0.587555 - } + }, + "updated": "2024-07-24T09:24:38.693536" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:101638393-101643269:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 101638393, - "end": 101643269, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 101638393, + "end": 101643269, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:101638394-101643269", "cnCount": 1, "cnValue": 0.660076 - } + }, + "updated": "2024-07-24T09:24:38.693543" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:111525217-111529387:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 111525217, - "end": 111529387, - "referenceName": "3", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 111525217, + "end": 111529387, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:111525218-111529387", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.693555" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:125953770-125956651:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 125953770, - "end": 125956651, - "referenceName": "3", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 125953770, + "end": 125956651, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:125953771-125956651", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.693562" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:131989421-131994116:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 131989421, - "end": 131994116, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 131989421, + "end": 131994116, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:131989422-131994116", "cnCount": 1, "cnValue": 0.467539 - } + }, + "updated": "2024-07-24T09:24:38.693572" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:132269989-132274491:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 132269989, - "end": 132274491, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 132269989, + "end": 132274491, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:132269990-132274491", "cnCount": 1, "cnValue": 0.531699 - } + }, + "updated": "2024-07-24T09:24:38.693581" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:139114320-139116981:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 139114320, - "end": 139116981, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 139114320, + "end": 139116981, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:139114321-139116981", "cnCount": 1, "cnValue": 0.170078 - } + }, + "updated": "2024-07-24T09:24:38.693591" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:146666609-146672696:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 146666609, - "end": 146672696, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 146666609, + "end": 146672696, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:146666610-146672696", "cnCount": 1, "cnValue": 0.5539 - } + }, + "updated": "2024-07-24T09:24:38.693598" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:158631769-158634383:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 158631769, - "end": 158634383, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 158631769, + "end": 158634383, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:158631770-158634383", "cnCount": 1, "cnValue": 0.371472 - } + }, + "updated": "2024-07-24T09:24:38.693608" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:162793771-162907876:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 162793771, - "end": 162907876, - "referenceName": "3", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 162793771, + "end": 162907876, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:162793772-162907876", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.693615" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:163047261-163051465:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 163047261, - "end": 163051465, - "referenceName": "3", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 163047261, + "end": 163051465, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:163047262-163051465", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.693622" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:178831770-178833778:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 178831770, - "end": 178833778, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 178831770, + "end": 178833778, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:178831771-178833778", "cnCount": 1, "cnValue": 0.450145 - } + }, + "updated": "2024-07-24T09:24:38.693629" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:190018324-190023714:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 190018324, - "end": 190023714, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 190018324, + "end": 190023714, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:190018325-190023714", "cnCount": 1, "cnValue": 0.70563 - } + }, + "updated": "2024-07-24T09:24:38.693636" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:191346952-191353984:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 191346952, - "end": 191353984, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 191346952, + "end": 191353984, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:191346953-191353984", "cnCount": 1, "cnValue": 0.507068 - } + }, + "updated": "2024-07-24T09:24:38.693643" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:193157630-193168407:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 193157630, - "end": 193168407, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 193157630, + "end": 193168407, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:193157631-193168407", "cnCount": 1, "cnValue": 0.496016 - } + }, + "updated": "2024-07-24T09:24:38.693652" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:195109133-195111415:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 195109133, - "end": 195111415, - "referenceName": "3", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 195109133, + "end": 195111415, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr3:195109134-195111415", "cnCount": 1, "cnValue": 0.394926 - } + }, + "updated": "2024-07-24T09:24:38.693664" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:195692330-195730221:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 195692330, - "end": 195730221, - "referenceName": "3", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 195692330, + "end": 195730221, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr3:195692331-195730221", "cnCount": 4, "cnValue": 2.03982 - } + }, + "updated": "2024-07-24T09:24:38.693672" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr3:195743183-195750205:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 195743183, - "end": 195750205, - "referenceName": "3", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 195743183, + "end": 195750205, + "chromosome": "3" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr3:195743184-195750205", "cnCount": 3, "cnValue": 1.72697 - } + }, + "updated": "2024-07-24T09:24:38.693679" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:1627764-1628838:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 1627764, - "end": 1628838, - "referenceName": "4", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 1627764, + "end": 1628838, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:1627765-1628838", "cnCount": 1, "cnValue": 0.383825 - } + }, + "updated": "2024-07-24T09:24:38.693686" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:8975473-8989669:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 8975473, - "end": 8989669, - "referenceName": "4", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 8975473, + "end": 8989669, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:8975474-8989669", "cnCount": 1, "cnValue": 0.503953 - } + }, + "updated": "2024-07-24T09:24:38.693693" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:9160921-9210062:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 9160921, - "end": 9210062, - "referenceName": "4", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 9160921, + "end": 9210062, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:9160922-9210062", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.693703" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:9453981-9479020:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 9453981, - "end": 9479020, - "referenceName": "4", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 9453981, + "end": 9479020, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:9453982-9479020", "cnCount": 1, "cnValue": 0.538589 - } + }, + "updated": "2024-07-24T09:24:38.693710" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:10208677-10232904:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 10208677, - "end": 10232904, - "referenceName": "4", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 10208677, + "end": 10232904, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:10208678-10232904", "cnCount": 1, "cnValue": 0.492303 - } + }, + "updated": "2024-07-24T09:24:38.693717" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:14921953-14923786:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 14921953, - "end": 14923786, - "referenceName": "4", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 14921953, + "end": 14923786, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:14921954-14923786", "cnCount": 1, "cnValue": 0.265227 - } + }, + "updated": "2024-07-24T09:24:38.693725" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:35201793-35203013:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 35201793, - "end": 35203013, - "referenceName": "4", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 35201793, + "end": 35203013, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:35201794-35203013", "cnCount": 1, "cnValue": 0.261962 - } + }, + "updated": "2024-07-24T09:24:38.693731" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:35238144-35242688:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 35238144, - "end": 35242688, - "referenceName": "4", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 35238144, + "end": 35242688, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:35238145-35242688", "cnCount": 1, "cnValue": 0.519445 - } + }, + "updated": "2024-07-24T09:24:38.693738" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:38261953-38264369:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 38261953, - "end": 38264369, - "referenceName": "4", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 38261953, + "end": 38264369, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:38261954-38264369", "cnCount": 1, "cnValue": 0.504012 - } + }, + "updated": "2024-07-24T09:24:38.693751" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:42760690-42767440:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 42760690, - "end": 42767440, - "referenceName": "4", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 42760690, + "end": 42767440, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:42760691-42767440", "cnCount": 1, "cnValue": 0.510514 - } + }, + "updated": "2024-07-24T09:24:38.693758" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:43449833-43452275:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 43449833, - "end": 43452275, - "referenceName": "4", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 43449833, + "end": 43452275, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:43449834-43452275", "cnCount": 0, "cnValue": 0.100269 - } + }, + "updated": "2024-07-24T09:24:38.693768" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:46200396-46202396:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 46200396, - "end": 46202396, - "referenceName": "4", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 46200396, + "end": 46202396, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:46200397-46202396", "cnCount": 0, "cnValue": 5.70636e-06 - } + }, + "updated": "2024-07-24T09:24:38.693777" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:49091134-49710847:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 49091134, - "end": 49710847, - "referenceName": "4", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 49091134, + "end": 49710847, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr4:49091135-49710847", "cnCount": 4, "cnValue": 2.0873 - } + }, + "updated": "2024-07-24T09:24:38.693785" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:61072749-61077102:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 61072749, - "end": 61077102, - "referenceName": "4", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 61072749, + "end": 61077102, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:61072750-61077102", "cnCount": 1, "cnValue": 0.600273 - } + }, + "updated": "2024-07-24T09:24:38.693792" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:62802723-62810491:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 62802723, - "end": 62810491, - "referenceName": "4", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 62802723, + "end": 62810491, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:62802724-62810491", "cnCount": 1, "cnValue": 0.547003 - } + }, + "updated": "2024-07-24T09:24:38.693809" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:63848004-63850250:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 63848004, - "end": 63850250, - "referenceName": "4", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 63848004, + "end": 63850250, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:63848005-63850250", "cnCount": 1, "cnValue": 0.334421 - } + }, + "updated": "2024-07-24T09:24:38.693816" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:68625271-68626771:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 68625271, - "end": 68626771, - "referenceName": "4", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 68625271, + "end": 68626771, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:68625272-68626771", "cnCount": 1, "cnValue": 0.193169 - } + }, + "updated": "2024-07-24T09:24:38.693823" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:70620439-70622805:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 70620439, - "end": 70622805, - "referenceName": "4", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 70620439, + "end": 70622805, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:70620440-70622805", "cnCount": 1, "cnValue": 0.229466 - } + }, + "updated": "2024-07-24T09:24:38.693830" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:74560421-74562047:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 74560421, - "end": 74562047, - "referenceName": "4", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 74560421, + "end": 74562047, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:74560422-74562047", "cnCount": 0, "cnValue": 0.11402 - } + }, + "updated": "2024-07-24T09:24:38.693837" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:91010393-91014567:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 91010393, - "end": 91014567, - "referenceName": "4", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 91010393, + "end": 91014567, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:91010394-91014567", "cnCount": 1, "cnValue": 0.443512 - } + }, + "updated": "2024-07-24T09:24:38.693846" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:97432536-97437207:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 97432536, - "end": 97437207, - "referenceName": "4", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 97432536, + "end": 97437207, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:97432537-97437207", "cnCount": 1, "cnValue": 0.416648 - } + }, + "updated": "2024-07-24T09:24:38.693860" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:118203762-118209053:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 118203762, - "end": 118209053, - "referenceName": "4", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 118203762, + "end": 118209053, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:118203763-118209053", "cnCount": 1, "cnValue": 0.58397 - } + }, + "updated": "2024-07-24T09:24:38.693867" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:129141010-129147292:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 129141010, - "end": 129147292, - "referenceName": "4", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 129141010, + "end": 129147292, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:129141011-129147292", "cnCount": 1, "cnValue": 0.425897 - } + }, + "updated": "2024-07-24T09:24:38.693874" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:134511960-134513960:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 134511960, - "end": 134513960, - "referenceName": "4", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 134511960, + "end": 134513960, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:134511961-134513960", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.693884" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:137170345-137179448:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 137170345, - "end": 137179448, - "referenceName": "4", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 137170345, + "end": 137179448, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:137170346-137179448", "cnCount": 1, "cnValue": 0.468512 - } + }, + "updated": "2024-07-24T09:24:38.693891" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:145517464-145518602:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 145517464, - "end": 145518602, - "referenceName": "4", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 145517464, + "end": 145518602, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:145517465-145518602", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.693900" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:161529051-161530051:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 161529051, - "end": 161530051, - "referenceName": "4", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 161529051, + "end": 161530051, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:161529052-161530051", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.693910" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:162471897-162476177:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 162471897, - "end": 162476177, - "referenceName": "4", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 162471897, + "end": 162476177, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:162471898-162476177", "cnCount": 1, "cnValue": 0.624488 - } + }, + "updated": "2024-07-24T09:24:38.693916" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:165080790-165083585:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 165080790, - "end": 165083585, - "referenceName": "4", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 165080790, + "end": 165083585, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:165080791-165083585", "cnCount": 0, "cnValue": 1.35405e-05 - } + }, + "updated": "2024-07-24T09:24:38.693923" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:166082557-166083736:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 166082557, - "end": 166083736, - "referenceName": "4", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 166082557, + "end": 166083736, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:166082558-166083736", "cnCount": 1, "cnValue": 0.209266 - } + }, + "updated": "2024-07-24T09:24:38.693930" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:171453312-171458890:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 171453312, - "end": 171458890, - "referenceName": "4", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 171453312, + "end": 171458890, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:171453313-171458890", "cnCount": 1, "cnValue": 0.499019 - } + }, + "updated": "2024-07-24T09:24:38.693939" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:172066194-172072199:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 172066194, - "end": 172072199, - "referenceName": "4", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 172066194, + "end": 172072199, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:172066195-172072199", "cnCount": 1, "cnValue": 0.593494 - } + }, + "updated": "2024-07-24T09:24:38.693946" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:172503765-172511714:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 172503765, - "end": 172511714, - "referenceName": "4", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 172503765, + "end": 172511714, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:172503766-172511714", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.693955" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:172511714-172512963:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 172511714, - "end": 172512963, - "referenceName": "4", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 172511714, + "end": 172512963, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:172511715-172512963", "cnCount": 1, "cnValue": 0.354143 - } + }, + "updated": "2024-07-24T09:24:38.693962" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:173482699-173485136:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 173482699, - "end": 173485136, - "referenceName": "4", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 173482699, + "end": 173485136, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:173482700-173485136", "cnCount": 0, "cnValue": 0.0683052 - } + }, + "updated": "2024-07-24T09:24:38.693971" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:185520339-185523457:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 185520339, - "end": 185523457, - "referenceName": "4", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 185520339, + "end": 185523457, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:185520340-185523457", "cnCount": 1, "cnValue": 0.563492 - } + }, + "updated": "2024-07-24T09:24:38.693978" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:186171566-186172566:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 186171566, - "end": 186172566, - "referenceName": "4", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 186171566, + "end": 186172566, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:186171567-186172566", "cnCount": 1, "cnValue": 0.34127 - } + }, + "updated": "2024-07-24T09:24:38.693987" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr4:186172566-186176967:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 186172566, - "end": 186176967, - "referenceName": "4", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 186172566, + "end": 186176967, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr4:186172567-186176967", "cnCount": 0, "cnValue": 1.00369e-09 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr4:190107374-190112142:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 190107374, - "end": 190112142, - "referenceName": "4", + }, + "updated": "2024-07-24T09:24:38.693994" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr4:190107374-190112142:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 190107374, + "end": 190112142, + "chromosome": "4" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr4:190107375-190112142", "cnCount": 10, "cnValue": 4.95238 - } + }, + "updated": "2024-07-24T09:24:38.694004" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr5:748928-750669:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 748928, - "end": 750669, - "referenceName": "5", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 748928, + "end": 750669, + "chromosome": "5" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr5:748929-750669", "cnCount": 0, "cnValue": 0.100557 - } + }, + "updated": "2024-07-24T09:24:38.694011" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr5:10272469-10275333:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 10272469, - "end": 10275333, - "referenceName": "5", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 10272469, + "end": 10275333, + "chromosome": "5" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr5:10272470-10275333", "cnCount": 1, "cnValue": 0.50819 - } + }, + "updated": "2024-07-24T09:24:38.694019" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr5:18643420-18647845:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 18643420, - "end": 18647845, - "referenceName": "5", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 18643420, + "end": 18647845, + "chromosome": "5" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr5:18643421-18647845", "cnCount": 1, "cnValue": 0.484778 - } + }, + "updated": "2024-07-24T09:24:38.694028" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr5:42627794-42631273:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 42627794, - "end": 42631273, - "referenceName": "5", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 42627794, + "end": 42631273, + "chromosome": "5" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr5:42627795-42631273", "cnCount": 1, "cnValue": 0.507937 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr5:49600323-49659153:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 49600323, - "end": 49659153, - "referenceName": "5", + }, + "updated": "2024-07-24T09:24:38.694035" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr5:49600323-49659153:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 49600323, + "end": 49659153, + "chromosome": "5" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr5:49600324-49659153", "cnCount": 74, "cnValue": 37.233 - } + }, + "updated": "2024-07-24T09:24:38.694042" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr5:58027140-58037491:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 58027140, - "end": 58037491, - "referenceName": "5", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 58027140, + "end": 58037491, + "chromosome": "5" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr5:58027141-58037491", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.694055" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr5:60705330-60709491:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 60705330, - "end": 60709491, - "referenceName": "5", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 60705330, + "end": 60709491, + "chromosome": "5" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr5:60705331-60709491", "cnCount": 1, "cnValue": 0.699134 - } + }, + "updated": "2024-07-24T09:24:38.694062" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr5:71009823-71014596:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 71009823, - "end": 71014596, - "referenceName": "5", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 71009823, + "end": 71014596, + "chromosome": "5" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr5:71009824-71014596", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.694069" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr5:84653030-84658280:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 84653030, - "end": 84658280, - "referenceName": "5", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 84653030, + "end": 84658280, + "chromosome": "5" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr5:84653031-84658280", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.694076" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr5:84658280-84659714:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 84658280, - "end": 84659714, - "referenceName": "5", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 84658280, + "end": 84659714, + "chromosome": "5" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr5:84658281-84659714", "cnCount": 1, "cnValue": 0.24951 - } + }, + "updated": "2024-07-24T09:24:38.694083" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr5:91203668-91205671:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 91203668, - "end": 91205671, - "referenceName": "5", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 91203668, + "end": 91205671, + "chromosome": "5" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr5:91203669-91205671", "cnCount": 0, "cnValue": 4.94185e-06 - } + }, + "updated": "2024-07-24T09:24:38.694092" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr5:92343117-92346318:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 92343117, - "end": 92346318, - "referenceName": "5", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 92343117, + "end": 92346318, + "chromosome": "5" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr5:92343118-92346318", "cnCount": 1, "cnValue": 0.294727 - } + }, + "updated": "2024-07-24T09:24:38.694101" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr5:106988245-106991247:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 106988245, - "end": 106991247, - "referenceName": "5", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 106988245, + "end": 106991247, + "chromosome": "5" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr5:106988246-106991247", "cnCount": 1, "cnValue": 0.708285 - } + }, + "updated": "2024-07-24T09:24:38.694108" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr5:120044233-120048823:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 120044233, - "end": 120048823, - "referenceName": "5", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 120044233, + "end": 120048823, + "chromosome": "5" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr5:120044234-120048823", "cnCount": 1, "cnValue": 0.588234 - } + }, + "updated": "2024-07-24T09:24:38.694115" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr5:128071868-128075103:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 128071868, - "end": 128075103, - "referenceName": "5", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 128071868, + "end": 128075103, + "chromosome": "5" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr5:128071869-128075103", "cnCount": 1, "cnValue": 0.474873 - } + }, + "updated": "2024-07-24T09:24:38.694124" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr5:135778927-135779979:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 135778927, - "end": 135779979, - "referenceName": "5", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 135778927, + "end": 135779979, + "chromosome": "5" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr5:135778928-135779979", "cnCount": 1, "cnValue": 0.31746 - } + }, + "updated": "2024-07-24T09:24:38.694131" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr5:135779979-135784225:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 135779979, - "end": 135784225, - "referenceName": "5", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 135779979, + "end": 135784225, + "chromosome": "5" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr5:135779980-135784225", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.694138" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr5:135784225-135785228:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 135784225, - "end": 135785228, - "referenceName": "5", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 135784225, + "end": 135785228, + "chromosome": "5" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr5:135784226-135785228", "cnCount": 1, "cnValue": 0.412698 - } + }, + "updated": "2024-07-24T09:24:38.694147" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr5:137518429-137520895:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 137518429, - "end": 137520895, - "referenceName": "5", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 137518429, + "end": 137520895, + "chromosome": "5" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr5:137518430-137520895", "cnCount": 1, "cnValue": 0.17227 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr5:141174188-141177724:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 141174188, - "end": 141177724, - "referenceName": "5", + }, + "updated": "2024-07-24T09:24:38.694154" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr5:141174188-141177724:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 141174188, + "end": 141177724, + "chromosome": "5" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr5:141174189-141177724", "cnCount": 5, "cnValue": 2.52729 - } + }, + "updated": "2024-07-24T09:24:38.694163" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr5:148172668-148175714:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 148172668, - "end": 148175714, - "referenceName": "5", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 148172668, + "end": 148175714, + "chromosome": "5" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr5:148172669-148175714", "cnCount": 1, "cnValue": 0.43463 - } + }, + "updated": "2024-07-24T09:24:38.694170" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr5:151410401-151413823:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 151410401, - "end": 151413823, - "referenceName": "5", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 151410401, + "end": 151413823, + "chromosome": "5" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr5:151410402-151413823", "cnCount": 1, "cnValue": 0.507068 - } + }, + "updated": "2024-07-24T09:24:38.694177" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr5:180949351-181005751:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 180949351, - "end": 181005751, - "referenceName": "5", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 180949351, + "end": 181005751, + "chromosome": "5" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr5:180949352-181005751", "cnCount": 1, "cnValue": 0.487537 - } + }, + "updated": "2024-07-24T09:24:38.694184" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:256330-296427:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 256330, - "end": 296427, - "referenceName": "6", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 256330, + "end": 296427, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr6:256331-296427", "cnCount": 3, "cnValue": 1.51598 - } + }, + "updated": "2024-07-24T09:24:38.694196" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:296427-381943:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 296427, - "end": 381943, - "referenceName": "6", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 296427, + "end": 381943, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr6:296428-381943", "cnCount": 4, "cnValue": 2.05602 - } + }, + "updated": "2024-07-24T09:24:38.694204" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:666457-667467:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 666457, - "end": 667467, - "referenceName": "6", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 666457, + "end": 667467, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:666458-667467", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.694213" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:2567302-2571566:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 2567302, - "end": 2571566, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 2567302, + "end": 2571566, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:2567303-2571566", "cnCount": 1, "cnValue": 0.597838 - } + }, + "updated": "2024-07-24T09:24:38.694220" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:3144674-3146221:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 3144674, - "end": 3146221, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 3144674, + "end": 3146221, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:3144675-3146221", "cnCount": 1, "cnValue": 0.207818 - } + }, + "updated": "2024-07-24T09:24:38.694227" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:8337519-8341639:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 8337519, - "end": 8341639, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 8337519, + "end": 8341639, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:8337520-8341639", "cnCount": 1, "cnValue": 0.501933 - } + }, + "updated": "2024-07-24T09:24:38.694234" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:17375747-17380973:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 17375747, - "end": 17380973, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 17375747, + "end": 17380973, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:17375748-17380973", "cnCount": 1, "cnValue": 0.54333 - } + }, + "updated": "2024-07-24T09:24:38.694246" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:18401262-18403262:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 18401262, - "end": 18403262, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 18401262, + "end": 18403262, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:18401263-18403262", "cnCount": 1, "cnValue": 0.297549 - } + }, + "updated": "2024-07-24T09:24:38.694253" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:29876479-29880341:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 29876479, - "end": 29880341, - "referenceName": "6", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 29876479, + "end": 29880341, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:29876480-29880341", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.694266" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:29880341-29882079:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 29880341, - "end": 29882079, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 29880341, + "end": 29882079, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:29880342-29882079", "cnCount": 1, "cnValue": 0.257873 - } + }, + "updated": "2024-07-24T09:24:38.694273" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:31316751-31324822:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 31316751, - "end": 31324822, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 31316751, + "end": 31324822, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:31316752-31324822", "cnCount": 1, "cnValue": 0.519084 - } + }, + "updated": "2024-07-24T09:24:38.694280" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:31324822-31328816:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 31324822, - "end": 31328816, - "referenceName": "6", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 31324822, + "end": 31328816, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:31324823-31328816", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.694287" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:31328816-31329992:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 31328816, - "end": 31329992, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 31328816, + "end": 31329992, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:31328817-31329992", "cnCount": 1, "cnValue": 0.325397 - } + }, + "updated": "2024-07-24T09:24:38.694296" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:32482721-32487315:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 32482721, - "end": 32487315, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 32482721, + "end": 32487315, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:32482722-32487315", "cnCount": 1, "cnValue": 0.527174 - } + }, + "updated": "2024-07-24T09:24:38.694307" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:32487315-32508260:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 32487315, - "end": 32508260, - "referenceName": "6", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 32487315, + "end": 32508260, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:32487316-32508260", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.694314" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:32510791-32548699:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 32510791, - "end": 32548699, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 32510791, + "end": 32548699, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:32510792-32548699", "cnCount": 1, "cnValue": 0.449064 - } + }, + "updated": "2024-07-24T09:24:38.694321" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:32555579-32561386:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 32555579, - "end": 32561386, - "referenceName": "6", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 32555579, + "end": 32561386, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:32555580-32561386", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.694328" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:32561386-32581401:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 32561386, - "end": 32581401, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 32561386, + "end": 32581401, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:32561387-32581401", "cnCount": 1, "cnValue": 0.55123 - } + }, + "updated": "2024-07-24T09:24:38.694334" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:32650923-32658146:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 32650923, - "end": 32658146, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 32650923, + "end": 32658146, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:32650924-32658146", "cnCount": 1, "cnValue": 0.484127 - } + }, + "updated": "2024-07-24T09:24:38.694345" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:33057536-33068822:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 33057536, - "end": 33068822, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 33057536, + "end": 33068822, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:33057537-33068822", "cnCount": 1, "cnValue": 0.642857 - } + }, + "updated": "2024-07-24T09:24:38.694351" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:35658419-35662195:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 35658419, - "end": 35662195, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 35658419, + "end": 35662195, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:35658420-35662195", "cnCount": 1, "cnValue": 0.52381 - } + }, + "updated": "2024-07-24T09:24:38.694358" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:35786589-35799129:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 35786589, - "end": 35799129, - "referenceName": "6", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 35786589, + "end": 35799129, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr6:35786590-35799129", "cnCount": 3, "cnValue": 1.53318 - } + }, + "updated": "2024-07-24T09:24:38.694378" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:47596759-47598995:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 47596759, - "end": 47598995, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 47596759, + "end": 47598995, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:47596760-47598995", "cnCount": 1, "cnValue": 0.464035 - } + }, + "updated": "2024-07-24T09:24:38.694388" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:51870199-51872199:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 51870199, - "end": 51872199, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 51870199, + "end": 51872199, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:51870200-51872199", "cnCount": 1, "cnValue": 0.45651 - } + }, + "updated": "2024-07-24T09:24:38.694395" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:54063778-54070034:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 54063778, - "end": 54070034, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 54063778, + "end": 54070034, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:54063779-54070034", "cnCount": 1, "cnValue": 0.537159 - } + }, + "updated": "2024-07-24T09:24:38.694407" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:54981375-54986969:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 54981375, - "end": 54986969, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 54981375, + "end": 54986969, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:54981376-54986969", "cnCount": 1, "cnValue": 0.651945 - } + }, + "updated": "2024-07-24T09:24:38.694413" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:62213477-62219655:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 62213477, - "end": 62219655, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 62213477, + "end": 62219655, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:62213478-62219655", "cnCount": 1, "cnValue": 0.566727 - } + }, + "updated": "2024-07-24T09:24:38.694423" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:65000883-65005882:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 65000883, - "end": 65005882, - "referenceName": "6", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 65000883, + "end": 65005882, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:65000884-65005882", "cnCount": 0, "cnValue": 4.78728e-06 - } + }, + "updated": "2024-07-24T09:24:38.694430" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:66298833-66338613:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 66298833, - "end": 66338613, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 66298833, + "end": 66338613, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:66298834-66338613", "cnCount": 1, "cnValue": 0.478531 - } + }, + "updated": "2024-07-24T09:24:38.694436" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:72154216-72158915:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 72154216, - "end": 72158915, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 72154216, + "end": 72158915, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:72154217-72158915", "cnCount": 1, "cnValue": 0.519705 - } + }, + "updated": "2024-07-24T09:24:38.694443" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:73881506-73892390:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 73881506, - "end": 73892390, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 73881506, + "end": 73892390, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:73881507-73892390", "cnCount": 1, "cnValue": 0.53731 - } + }, + "updated": "2024-07-24T09:24:38.694452" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:73904153-73910372:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 73904153, - "end": 73910372, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 73904153, + "end": 73910372, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:73904154-73910372", "cnCount": 1, "cnValue": 0.523933 - } + }, + "updated": "2024-07-24T09:24:38.694459" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:76387527-76390975:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 76387527, - "end": 76390975, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 76387527, + "end": 76390975, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:76387528-76390975", "cnCount": 1, "cnValue": 0.507931 - } + }, + "updated": "2024-07-24T09:24:38.694465" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:76729312-76742997:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 76729312, - "end": 76742997, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 76729312, + "end": 76742997, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:76729313-76742997", "cnCount": 1, "cnValue": 0.422354 - } + }, + "updated": "2024-07-24T09:24:38.694472" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:80573607-80584016:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 80573607, - "end": 80584016, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 80573607, + "end": 80584016, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:80573608-80584016", "cnCount": 1, "cnValue": 0.547336 - } + }, + "updated": "2024-07-24T09:24:38.694479" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:87127175-87128653:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 87127175, - "end": 87128653, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 87127175, + "end": 87128653, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:87127176-87128653", "cnCount": 1, "cnValue": 0.211708 - } + }, + "updated": "2024-07-24T09:24:38.694488" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:95307752-95316816:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 95307752, - "end": 95316816, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 95307752, + "end": 95316816, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:95307753-95316816", "cnCount": 1, "cnValue": 0.494752 - } + }, + "updated": "2024-07-24T09:24:38.694498" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:132385414-132392358:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 132385414, - "end": 132392358, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 132385414, + "end": 132392358, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:132385415-132392358", "cnCount": 1, "cnValue": 0.659361 - } + }, + "updated": "2024-07-24T09:24:38.694504" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:148875660-148878868:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 148875660, - "end": 148878868, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 148875660, + "end": 148878868, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:148875661-148878868", "cnCount": 1, "cnValue": 0.7136 - } + }, + "updated": "2024-07-24T09:24:38.694511" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:159664279-159667540:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 159664279, - "end": 159667540, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 159664279, + "end": 159667540, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:159664280-159667540", "cnCount": 1, "cnValue": 0.479509 - } + }, + "updated": "2024-07-24T09:24:38.694521" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:162009830-162012173:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 162009830, - "end": 162012173, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 162009830, + "end": 162012173, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:162009831-162012173", "cnCount": 1, "cnValue": 0.445206 - } + }, + "updated": "2024-07-24T09:24:38.694527" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:169804172-169809778:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 169804172, - "end": 169809778, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 169804172, + "end": 169809778, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:169804173-169809778", "cnCount": 1, "cnValue": 0.685339 - } + }, + "updated": "2024-07-24T09:24:38.694534" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr6:170168152-170169937:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 170168152, - "end": 170169937, - "referenceName": "6", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 170168152, + "end": 170169937, + "chromosome": "6" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr6:170168153-170169937", "cnCount": 1, "cnValue": 0.258732 - } + }, + "updated": "2024-07-24T09:24:38.694543" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:4117577-4120847:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 4117577, - "end": 4120847, - "referenceName": "7", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 4117577, + "end": 4120847, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:4117578-4120847", "cnCount": 1, "cnValue": 0.499019 - } + }, + "updated": "2024-07-24T09:24:38.694550" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:22394287-22397291:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 22394287, - "end": 22397291, - "referenceName": "7", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 22394287, + "end": 22397291, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:22394288-22397291", "cnCount": 1, "cnValue": 0.579365 - } + }, + "updated": "2024-07-24T09:24:38.694557" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:23998508-24000508:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 23998508, - "end": 24000508, - "referenceName": "7", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 23998508, + "end": 24000508, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:23998509-24000508", "cnCount": 0, "cnValue": 1.33314e-05 - } + }, + "updated": "2024-07-24T09:24:38.694568" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:44226202-44228220:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 44226202, - "end": 44228220, - "referenceName": "7", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 44226202, + "end": 44228220, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:44226203-44228220", "cnCount": 1, "cnValue": 0.524198 - } + }, + "updated": "2024-07-24T09:24:38.694575" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:51525987-51532139:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 51525987, - "end": 51532139, - "referenceName": "7", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 51525987, + "end": 51532139, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:51525988-51532139", "cnCount": 1, "cnValue": 0.571429 - } + }, + "updated": "2024-07-24T09:24:38.694584" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:56368469-56370019:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 56368469, - "end": 56370019, - "referenceName": "7", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 56368469, + "end": 56370019, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:56368470-56370019", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.694593" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:57409597-57418190:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 57409597, - "end": 57418190, - "referenceName": "7", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 57409597, + "end": 57418190, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:57409598-57418190", "cnCount": 1, "cnValue": 0.462368 - } + }, + "updated": "2024-07-24T09:24:38.694600" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:61045759-61052411:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 61045759, - "end": 61052411, - "referenceName": "7", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 61045759, + "end": 61052411, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr7:61045760-61052411", "cnCount": 3, "cnValue": 1.51316 - } + }, + "updated": "2024-07-24T09:24:38.694607" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:62384106-62409374:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 62384106, - "end": 62409374, - "referenceName": "7", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 62384106, + "end": 62409374, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr7:62384107-62409374", "cnCount": 4, "cnValue": 1.79457 - } + }, + "updated": "2024-07-24T09:24:38.694614" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:65225919-65228104:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 65225919, - "end": 65228104, - "referenceName": "7", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 65225919, + "end": 65228104, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:65225920-65228104", "cnCount": 0, "cnValue": 0.137277 - } + }, + "updated": "2024-07-24T09:24:38.694623" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:70955199-70960915:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 70955199, - "end": 70960915, - "referenceName": "7", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 70955199, + "end": 70960915, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:70955200-70960915", "cnCount": 1, "cnValue": 0.532788 - } + }, + "updated": "2024-07-24T09:24:38.694630" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:74134389-74137550:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 74134389, - "end": 74137550, - "referenceName": "7", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 74134389, + "end": 74137550, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:74134390-74137550", "cnCount": 1, "cnValue": 0.460795 - } + }, + "updated": "2024-07-24T09:24:38.694640" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:74414078-74417063:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 74414078, - "end": 74417063, - "referenceName": "7", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 74414078, + "end": 74417063, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:74414079-74417063", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.694650" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:76515393-76518051:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 76515393, - "end": 76518051, - "referenceName": "7", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 76515393, + "end": 76518051, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:76515394-76518051", "cnCount": 1, "cnValue": 0.518682 - } + }, + "updated": "2024-07-24T09:24:38.694656" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:84423898-84425002:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 84423898, - "end": 84425002, - "referenceName": "7", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 84423898, + "end": 84425002, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:84423899-84425002", "cnCount": 1, "cnValue": 0.261962 - } + }, + "updated": "2024-07-24T09:24:38.694663" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:96914338-96916573:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 96914338, - "end": 96916573, - "referenceName": "7", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 96914338, + "end": 96916573, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:96914339-96916573", "cnCount": 1, "cnValue": 0.430404 - } + }, + "updated": "2024-07-24T09:24:38.694673" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:100729038-100745203:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 100729038, - "end": 100745203, - "referenceName": "7", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 100729038, + "end": 100745203, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:100729039-100745203", "cnCount": 1, "cnValue": 0.536966 - } + }, + "updated": "2024-07-24T09:24:38.694680" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:100955984-100969873:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 100955984, - "end": 100969873, - "referenceName": "7", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 100955984, + "end": 100969873, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr7:100955985-100969873", "cnCount": 3, "cnValue": 1.5763 - } + }, + "updated": "2024-07-24T09:24:38.694689" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:101415123-101417578:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 101415123, - "end": 101417578, - "referenceName": "7", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 101415123, + "end": 101417578, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:101415124-101417578", "cnCount": 1, "cnValue": 0.309063 - } + }, + "updated": "2024-07-24T09:24:38.694696" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:109801954-109813192:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 109801954, - "end": 109813192, - "referenceName": "7", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 109801954, + "end": 109813192, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:109801955-109813192", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.694703" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:110541589-110548681:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 110541589, - "end": 110548681, - "referenceName": "7", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 110541589, + "end": 110548681, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:110541590-110548681", "cnCount": 1, "cnValue": 0.519084 - } + }, + "updated": "2024-07-24T09:24:38.694710" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:119190727-119194728:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 119190727, - "end": 119194728, - "referenceName": "7", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 119190727, + "end": 119194728, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:119190728-119194728", "cnCount": 1, "cnValue": 0.542556 - } + }, + "updated": "2024-07-24T09:24:38.694717" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:126408720-126410797:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 126408720, - "end": 126410797, - "referenceName": "7", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 126408720, + "end": 126410797, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:126408721-126410797", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.694733" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:130056400-130057973:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 130056400, - "end": 130057973, - "referenceName": "7", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 130056400, + "end": 130057973, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:130056401-130057973", "cnCount": 1, "cnValue": 0.324428 - } + }, + "updated": "2024-07-24T09:24:38.694742" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:134100246-134114019:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 134100246, - "end": 134114019, - "referenceName": "7", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 134100246, + "end": 134114019, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:134100247-134114019", "cnCount": 1, "cnValue": 0.496994 - } + }, + "updated": "2024-07-24T09:24:38.694749" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:142346085-142351408:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 142346085, - "end": 142351408, - "referenceName": "7", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 142346085, + "end": 142351408, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:142346086-142351408", "cnCount": 1, "cnValue": 0.206349 - } + }, + "updated": "2024-07-24T09:24:38.694758" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:143847159-143850286:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 143847159, - "end": 143850286, - "referenceName": "7", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 143847159, + "end": 143850286, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr7:143847160-143850286", "cnCount": 4, "cnValue": 1.88168 - } + }, + "updated": "2024-07-24T09:24:38.694768" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:145073279-145078938:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 145073279, - "end": 145078938, - "referenceName": "7", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 145073279, + "end": 145078938, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:145073280-145078938", "cnCount": 1, "cnValue": 0.462965 - } + }, + "updated": "2024-07-24T09:24:38.694775" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:147604387-147606397:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 147604387, - "end": 147606397, - "referenceName": "7", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 147604387, + "end": 147606397, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:147604388-147606397", "cnCount": 1, "cnValue": 0.471805 - } + }, + "updated": "2024-07-24T09:24:38.694781" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:148374793-148379247:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 148374793, - "end": 148379247, - "referenceName": "7", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 148374793, + "end": 148379247, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:148374794-148379247", "cnCount": 1, "cnValue": 0.527578 - } + }, + "updated": "2024-07-24T09:24:38.694790" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:152378643-152383411:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 152378643, - "end": 152383411, - "referenceName": "7", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 152378643, + "end": 152383411, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr7:152378644-152383411", "cnCount": 4, "cnValue": 1.78864 - } + }, + "updated": "2024-07-24T09:24:38.694797" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:152402281-152406508:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 152402281, - "end": 152406508, - "referenceName": "7", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 152402281, + "end": 152406508, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr7:152402282-152406508", "cnCount": 4, "cnValue": 2.09424 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr7:158595166-158596203:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 158595166, - "end": 158596203, - "referenceName": "7", + }, + "updated": "2024-07-24T09:24:38.694805" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr7:158595166-158596203:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 158595166, + "end": 158596203, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr7:158595167-158596203", "cnCount": 16, "cnValue": 8.1168 - } + }, + "updated": "2024-07-24T09:24:38.694812" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr7:158707513-158711583:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 158707513, - "end": 158711583, - "referenceName": "7", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 158707513, + "end": 158711583, + "chromosome": "7" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr7:158707514-158711583", "cnCount": 1, "cnValue": 0.479509 - } + }, + "updated": "2024-07-24T09:24:38.694819" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr8:644391-649424:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 644391, - "end": 649424, - "referenceName": "8", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 644391, + "end": 649424, + "chromosome": "8" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr8:644392-649424", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.694826" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr8:4265451-4267451:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 4265451, - "end": 4267451, - "referenceName": "8", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 4265451, + "end": 4267451, + "chromosome": "8" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr8:4265452-4267451", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.694837" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr8:6111654-6115288:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 6111654, - "end": 6115288, - "referenceName": "8", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 6111654, + "end": 6115288, + "chromosome": "8" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr8:6111655-6115288", "cnCount": 1, "cnValue": 0.69622 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr8:12560048-12584463:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 12560048, - "end": 12584463, - "referenceName": "8", + }, + "updated": "2024-07-24T09:24:38.694844" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr8:12560048-12584463:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 12560048, + "end": 12584463, + "chromosome": "8" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr8:12560049-12584463", "cnCount": 6, "cnValue": 3.1896 - } + }, + "updated": "2024-07-24T09:24:38.694854" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr8:15544109-15556959:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 15544109, - "end": 15556959, - "referenceName": "8", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 15544109, + "end": 15556959, + "chromosome": "8" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr8:15544110-15556959", "cnCount": 1, "cnValue": 0.429867 - } + }, + "updated": "2024-07-24T09:24:38.694861" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr8:25114407-25132807:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 25114407, - "end": 25132807, - "referenceName": "8", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 25114407, + "end": 25132807, + "chromosome": "8" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr8:25114408-25132807", "cnCount": 1, "cnValue": 0.5 - } + }, + "updated": "2024-07-24T09:24:38.694868" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr8:25209411-25212941:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 25209411, - "end": 25212941, - "referenceName": "8", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 25209411, + "end": 25212941, + "chromosome": "8" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr8:25209412-25212941", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.694875" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr8:32822459-32833520:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 32822459, - "end": 32833520, - "referenceName": "8", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 32822459, + "end": 32833520, + "chromosome": "8" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr8:32822460-32833520", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.694885" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr8:39375061-39529533:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 39375061, - "end": 39529533, - "referenceName": "8", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 39375061, + "end": 39529533, + "chromosome": "8" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr8:39375062-39529533", "cnCount": 1, "cnValue": 0.503576 - } + }, + "updated": "2024-07-24T09:24:38.694892" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr8:40916708-40922334:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 40916708, - "end": 40922334, - "referenceName": "8", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 40916708, + "end": 40922334, + "chromosome": "8" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr8:40916709-40922334", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.694899" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr8:42333155-42336529:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 42333155, - "end": 42336529, - "referenceName": "8", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 42333155, + "end": 42336529, + "chromosome": "8" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr8:42333156-42336529", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.694905" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr8:62121210-62128238:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 62121210, - "end": 62128238, - "referenceName": "8", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 62121210, + "end": 62128238, + "chromosome": "8" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr8:62121211-62128238", "cnCount": 1, "cnValue": 0.563492 - } + }, + "updated": "2024-07-24T09:24:38.694912" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr8:73920978-73924999:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 73920978, - "end": 73924999, - "referenceName": "8", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 73920978, + "end": 73924999, + "chromosome": "8" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr8:73920979-73924999", "cnCount": 1, "cnValue": 0.52381 - } + }, + "updated": "2024-07-24T09:24:38.694919" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr8:74449873-74454363:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 74449873, - "end": 74454363, - "referenceName": "8", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 74449873, + "end": 74454363, + "chromosome": "8" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr8:74449874-74454363", "cnCount": 1, "cnValue": 0.508953 - } + }, + "updated": "2024-07-24T09:24:38.694928" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr8:111282070-111284315:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 111282070, - "end": 111284315, - "referenceName": "8", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 111282070, + "end": 111284315, + "chromosome": "8" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr8:111282071-111284315", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.694937" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr8:126179582-126182740:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 126179582, - "end": 126182740, - "referenceName": "8", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 126179582, + "end": 126182740, + "chromosome": "8" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr8:126179583-126182740", "cnCount": 1, "cnValue": 0.474873 - } + }, + "updated": "2024-07-24T09:24:38.694950" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr8:136146022-136152022:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 136146022, - "end": 136152022, - "referenceName": "8", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 136146022, + "end": 136152022, + "chromosome": "8" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr8:136146023-136152022", "cnCount": 1, "cnValue": 0.618437 - } + }, + "updated": "2024-07-24T09:24:38.694960" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr8:137729819-137731844:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 137729819, - "end": 137731844, - "referenceName": "8", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 137729819, + "end": 137731844, + "chromosome": "8" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr8:137729820-137731844", "cnCount": 1, "cnValue": 0.39841 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr8:144125572-144126580:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 144125572, - "end": 144126580, - "referenceName": "8", + }, + "updated": "2024-07-24T09:24:38.694967" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr8:144125572-144126580:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 144125572, + "end": 144126580, + "chromosome": "8" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr8:144125573-144126580", "cnCount": 10, "cnValue": 4.77618 - } + }, + "updated": "2024-07-24T09:24:38.694974" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr8:145071008-145076762:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 145071008, - "end": 145076762, - "referenceName": "8", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 145071008, + "end": 145076762, + "chromosome": "8" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr8:145071009-145076762", "cnCount": 1, "cnValue": 0.507808 - } + }, + "updated": "2024-07-24T09:24:38.694983" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr9:6700575-6710802:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 6700575, - "end": 6710802, - "referenceName": "9", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 6700575, + "end": 6710802, + "chromosome": "9" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr9:6700576-6710802", "cnCount": 1, "cnValue": 0.516979 - } + }, + "updated": "2024-07-24T09:24:38.694990" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr9:23362491-23377315:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 23362491, - "end": 23377315, - "referenceName": "9", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 23362491, + "end": 23377315, + "chromosome": "9" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr9:23362492-23377315", "cnCount": 1, "cnValue": 0.523749 - } + }, + "updated": "2024-07-24T09:24:38.694997" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr9:28846002-28849079:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 28846002, - "end": 28849079, - "referenceName": "9", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 28846002, + "end": 28849079, + "chromosome": "9" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr9:28846003-28849079", "cnCount": 1, "cnValue": 0.47619 - } + }, + "updated": "2024-07-24T09:24:38.695004" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr9:31290892-31292898:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 31290892, - "end": 31292898, - "referenceName": "9", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 31290892, + "end": 31292898, + "chromosome": "9" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr9:31290893-31292898", "cnCount": 1, "cnValue": 0.193449 - } + }, + "updated": "2024-07-24T09:24:38.695010" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr9:36362519-36364766:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 36362519, - "end": 36364766, - "referenceName": "9", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 36362519, + "end": 36364766, + "chromosome": "9" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr9:36362520-36364766", "cnCount": 0, "cnValue": 0.153516 - } + }, + "updated": "2024-07-24T09:24:38.695017" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr9:39015845-39588966:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 39015845, - "end": 39588966, - "referenceName": "9", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 39015845, + "end": 39588966, + "chromosome": "9" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr9:39015846-39588966", "cnCount": 4, "cnValue": 2.14113 - } + }, + "updated": "2024-07-24T09:24:38.695029" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr9:40868678-41050016:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 40868678, - "end": 41050016, - "referenceName": "9", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 40868678, + "end": 41050016, + "chromosome": "9" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr9:40868679-41050016", "cnCount": 4, "cnValue": 1.95985 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr9:42386877-42389275:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 42386877, - "end": 42389275, - "referenceName": "9", + }, + "updated": "2024-07-24T09:24:38.695037" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr9:42386877-42389275:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 42386877, + "end": 42389275, + "chromosome": "9" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr9:42386878-42389275", "cnCount": 7, "cnValue": 3.45266 - } + }, + "updated": "2024-07-24T09:24:38.695049" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr9:42457553-42719610:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 42457553, - "end": 42719610, - "referenceName": "9", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 42457553, + "end": 42719610, + "chromosome": "9" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr9:42457554-42719610", "cnCount": 1, "cnValue": 0.493518 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr9:63816631-63817978:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 63816631, - "end": 63817978, - "referenceName": "9", + }, + "updated": "2024-07-24T09:24:38.695056" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr9:63816631-63817978:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 63816631, + "end": 63817978, + "chromosome": "9" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr9:63816632-63817978", "cnCount": 10, "cnValue": 5.23567 - } + }, + "updated": "2024-07-24T09:24:38.695063" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr9:69122381-69128406:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 69122381, - "end": 69128406, - "referenceName": "9", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 69122381, + "end": 69128406, + "chromosome": "9" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr9:69122382-69128406", "cnCount": 1, "cnValue": 0.57826 - } + }, + "updated": "2024-07-24T09:24:38.695070" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr9:69279468-69282417:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 69279468, - "end": 69282417, - "referenceName": "9", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 69279468, + "end": 69282417, + "chromosome": "9" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr9:69279469-69282417", "cnCount": 1, "cnValue": 0.473036 - } + }, + "updated": "2024-07-24T09:24:38.695084" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr9:105036262-105042828:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 105036262, - "end": 105042828, - "referenceName": "9", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 105036262, + "end": 105042828, + "chromosome": "9" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr9:105036263-105042828", "cnCount": 1, "cnValue": 0.532192 - } + }, + "updated": "2024-07-24T09:24:38.695092" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr9:128138127-128140780:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 128138127, - "end": 128140780, - "referenceName": "9", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 128138127, + "end": 128140780, + "chromosome": "9" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr9:128138128-128140780", "cnCount": 1, "cnValue": 0.47364 - } + }, + "updated": "2024-07-24T09:24:38.695098" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr9:128649539-128652497:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 128649539, - "end": 128652497, - "referenceName": "9", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 128649539, + "end": 128652497, + "chromosome": "9" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr9:128649540-128652497", "cnCount": 0, "cnValue": 0.114252 - } + }, + "updated": "2024-07-24T09:24:38.695105" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr9:133070584-133081919:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 133070584, - "end": 133081919, - "referenceName": "9", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 133070584, + "end": 133081919, + "chromosome": "9" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr9:133070585-133081919", "cnCount": 3, "cnValue": 1.69841 - } + }, + "updated": "2024-07-24T09:24:38.695112" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr9:135030776-135031830:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 135030776, - "end": 135031830, - "referenceName": "9", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 135030776, + "end": 135031830, + "chromosome": "9" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr9:135030777-135031830", "cnCount": 1, "cnValue": 0.254744 - } + }, + "updated": "2024-07-24T09:24:38.695119" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr9:135322449-135325511:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 135322449, - "end": 135325511, - "referenceName": "9", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 135322449, + "end": 135325511, + "chromosome": "9" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr9:135322450-135325511", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.695131" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr9:137358689-137361189:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 137358689, - "end": 137361189, - "referenceName": "9", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 137358689, + "end": 137361189, + "chromosome": "9" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr9:137358690-137361189", "cnCount": 0, "cnValue": 6.09083e-06 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr10:2391968-2393024:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 2391968, - "end": 2393024, - "referenceName": "10", + }, + "updated": "2024-07-24T09:24:38.695141" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr10:2391968-2393024:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 2391968, + "end": 2393024, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr10:2391969-2393024", "cnCount": 9, "cnValue": 4.3541 - } + }, + "updated": "2024-07-24T09:24:38.695148" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:4247249-4248249:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 4247249, - "end": 4248249, - "referenceName": "10", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 4247249, + "end": 4248249, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr10:4247250-4248249", "cnCount": 1, "cnValue": 0.382902 - } + }, + "updated": "2024-07-24T09:24:38.695158" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:4248249-4249249:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 4248249, - "end": 4249249, - "referenceName": "10", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 4248249, + "end": 4249249, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr10:4248250-4249249", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.695166" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:4666065-4668073:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 4666065, - "end": 4668073, - "referenceName": "10", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 4666065, + "end": 4668073, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr10:4666066-4668073", "cnCount": 0, "cnValue": 4.035e-06 - } + }, + "updated": "2024-07-24T09:24:38.695173" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:8268376-8269930:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 8268376, - "end": 8269930, - "referenceName": "10", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 8268376, + "end": 8269930, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr10:8268377-8269930", "cnCount": 1, "cnValue": 0.265227 - } + }, + "updated": "2024-07-24T09:24:38.695182" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:26709423-26711241:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 26709423, - "end": 26711241, - "referenceName": "10", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 26709423, + "end": 26711241, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr10:26709424-26711241", "cnCount": 1, "cnValue": 0.251171 - } + }, + "updated": "2024-07-24T09:24:38.695196" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:26711241-26712449:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 26711241, - "end": 26712449, - "referenceName": "10", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 26711241, + "end": 26712449, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr10:26711242-26712449", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.695204" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:27347450-27353902:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 27347450, - "end": 27353902, - "referenceName": "10", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 27347450, + "end": 27353902, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr10:27347451-27353902", "cnCount": 1, "cnValue": 0.706349 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr10:38526736-38528684:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 38526736, - "end": 38528684, - "referenceName": "10", + }, + "updated": "2024-07-24T09:24:38.695210" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr10:38526736-38528684:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 38526736, + "end": 38528684, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr10:38526737-38528684", "cnCount": 11, "cnValue": 5.3254 - } + }, + "updated": "2024-07-24T09:24:38.695218" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:38941858-38961662:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 38941858, - "end": 38961662, - "referenceName": "10", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 38941858, + "end": 38961662, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr10:38941859-38961662", "cnCount": 3, "cnValue": 1.30956 - } + }, + "updated": "2024-07-24T09:24:38.695229" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:39256688-39267943:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 39256688, - "end": 39267943, - "referenceName": "10", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 39256688, + "end": 39267943, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr10:39256689-39267943", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.695238" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:39337005-39341533:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 39337005, - "end": 39341533, - "referenceName": "10", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 39337005, + "end": 39341533, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr10:39337006-39341533", "cnCount": 1, "cnValue": 0.668042 - } + }, + "updated": "2024-07-24T09:24:38.695245" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:39341533-39360073:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 39341533, - "end": 39360073, - "referenceName": "10", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 39341533, + "end": 39360073, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr10:39341534-39360073", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.695252" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:39545807-39549942:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 39545807, - "end": 39549942, - "referenceName": "10", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 39545807, + "end": 39549942, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr10:39545808-39549942", "cnCount": 4, "cnValue": 1.75462 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr10:41857569-42088651:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 41857569, - "end": 42088651, - "referenceName": "10", + }, + "updated": "2024-07-24T09:24:38.695259" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr10:41857569-42088651:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 41857569, + "end": 42088651, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr10:41857570-42088651", "cnCount": 6, "cnValue": 2.96032 - } + }, + "updated": "2024-07-24T09:24:38.695269" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:42160064-42173508:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 42160064, - "end": 42173508, - "referenceName": "10", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 42160064, + "end": 42173508, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr10:42160065-42173508", "cnCount": 4, "cnValue": 2.17851 - } + }, + "updated": "2024-07-24T09:24:38.695276" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:46106524-46332501:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 46106524, - "end": 46332501, - "referenceName": "10", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 46106524, + "end": 46332501, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr10:46106525-46332501", "cnCount": 3, "cnValue": 1.49206 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr10:46514859-46560711:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 46514859, - "end": 46560711, - "referenceName": "10", + }, + "updated": "2024-07-24T09:24:38.695286" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr10:46514859-46560711:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 46514859, + "end": 46560711, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr10:46514860-46560711", "cnCount": 8, "cnValue": 3.92177 - } + }, + "updated": "2024-07-24T09:24:38.695294" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:49794060-49803465:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 49794060, - "end": 49803465, - "referenceName": "10", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 49794060, + "end": 49803465, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr10:49794061-49803465", "cnCount": 1, "cnValue": 0.496994 - } + }, + "updated": "2024-07-24T09:24:38.695301" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:50148772-50151726:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 50148772, - "end": 50151726, - "referenceName": "10", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 50148772, + "end": 50151726, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr10:50148773-50151726", "cnCount": 1, "cnValue": 0.24878 - } + }, + "updated": "2024-07-24T09:24:38.695308" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:63748533-63751094:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 63748533, - "end": 63751094, - "referenceName": "10", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 63748533, + "end": 63751094, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr10:63748534-63751094", "cnCount": 1, "cnValue": 0.497301 - } + }, + "updated": "2024-07-24T09:24:38.695317" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:65546751-65555346:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 65546751, - "end": 65555346, - "referenceName": "10", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 65546751, + "end": 65555346, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr10:65546752-65555346", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.695324" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:76495364-76500487:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 76495364, - "end": 76500487, - "referenceName": "10", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 76495364, + "end": 76500487, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr10:76495365-76500487", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.695336" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:76500487-76501523:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 76500487, - "end": 76501523, - "referenceName": "10", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 76500487, + "end": 76501523, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr10:76500488-76501523", "cnCount": 1, "cnValue": 0.24951 - } + }, + "updated": "2024-07-24T09:24:38.695343" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:91872908-91875233:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 91872908, - "end": 91875233, - "referenceName": "10", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 91872908, + "end": 91875233, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr10:91872909-91875233", "cnCount": 1, "cnValue": 0.317361 - } + }, + "updated": "2024-07-24T09:24:38.695350" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:93785585-93786585:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 93785585, - "end": 93786585, - "referenceName": "10", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 93785585, + "end": 93786585, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr10:93785586-93786585", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.695357" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:106190901-106191901:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 106190901, - "end": 106191901, - "referenceName": "10", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 106190901, + "end": 106191901, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr10:106190902-106191901", "cnCount": 0, "cnValue": 0.136828 - } + }, + "updated": "2024-07-24T09:24:38.695364" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:112351828-112356331:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 112351828, - "end": 112356331, - "referenceName": "10", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 112351828, + "end": 112356331, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr10:112351829-112356331", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.695373" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:120466541-120467755:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 120466541, - "end": 120467755, - "referenceName": "10", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 120466541, + "end": 120467755, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr10:120466542-120467755", "cnCount": 1, "cnValue": 0.296944 - } + }, + "updated": "2024-07-24T09:24:38.695383" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:120467755-120468839:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 120467755, - "end": 120468839, - "referenceName": "10", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 120467755, + "end": 120468839, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr10:120467756-120468839", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.695390" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:125895379-125906708:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 125895379, - "end": 125906708, - "referenceName": "10", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 125895379, + "end": 125906708, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr10:125895380-125906708", "cnCount": 3, "cnValue": 1.32062 - } + }, + "updated": "2024-07-24T09:24:38.695397" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:131190355-131192784:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 131190355, - "end": 131192784, - "referenceName": "10", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 131190355, + "end": 131192784, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr10:131190356-131192784", "cnCount": 1, "cnValue": 0.438488 - } + }, + "updated": "2024-07-24T09:24:38.695406" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:131622110-131625092:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 131622110, - "end": 131625092, - "referenceName": "10", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 131622110, + "end": 131625092, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr10:131622111-131625092", "cnCount": 1, "cnValue": 0.485934 - } + }, + "updated": "2024-07-24T09:24:38.695413" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:132326676-132550814:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 132326676, - "end": 132550814, - "referenceName": "10", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 132326676, + "end": 132550814, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr10:132326677-132550814", "cnCount": 3, "cnValue": 1.5821 - } + }, + "updated": "2024-07-24T09:24:38.695421" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr10:133427403-133429120:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 133427403, - "end": 133429120, - "referenceName": "10", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 133427403, + "end": 133429120, + "chromosome": "10" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr10:133427404-133429120", "cnCount": 1, "cnValue": 0.206349 - } + }, + "updated": "2024-07-24T09:24:38.695430" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr11:4945654-4955199:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 4945654, - "end": 4955199, - "referenceName": "11", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 4945654, + "end": 4955199, + "chromosome": "11" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr11:4945655-4955199", "cnCount": 1, "cnValue": 0.535244 - } + }, + "updated": "2024-07-24T09:24:38.695437" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr11:28985120-28991512:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 28985120, - "end": 28991512, - "referenceName": "11", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 28985120, + "end": 28991512, + "chromosome": "11" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr11:28985121-28991512", "cnCount": 1, "cnValue": 0.514865 - } + }, + "updated": "2024-07-24T09:24:38.695443" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr11:31371735-31375941:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 31371735, - "end": 31375941, - "referenceName": "11", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 31371735, + "end": 31375941, + "chromosome": "11" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr11:31371736-31375941", "cnCount": 1, "cnValue": 0.574046 - } + }, + "updated": "2024-07-24T09:24:38.695450" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr11:42792780-42797221:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 42792780, - "end": 42797221, - "referenceName": "11", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 42792780, + "end": 42797221, + "chromosome": "11" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr11:42792781-42797221", "cnCount": 1, "cnValue": 0.456481 - } + }, + "updated": "2024-07-24T09:24:38.695460" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr11:47035440-47041774:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 47035440, - "end": 47041774, - "referenceName": "11", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 47035440, + "end": 47041774, + "chromosome": "11" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr11:47035441-47041774", "cnCount": 1, "cnValue": 0.464286 - } + }, + "updated": "2024-07-24T09:24:38.695466" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr11:54756289-54777366:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 54756289, - "end": 54777366, - "referenceName": "11", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 54756289, + "end": 54777366, + "chromosome": "11" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr11:54756290-54777366", "cnCount": 1, "cnValue": 0.490971 - } + }, + "updated": "2024-07-24T09:24:38.695478" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr11:54929538-54937738:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 54929538, - "end": 54937738, - "referenceName": "11", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 54929538, + "end": 54937738, + "chromosome": "11" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr11:54929539-54937738", "cnCount": 3, "cnValue": 1.47291 - } + }, + "updated": "2024-07-24T09:24:38.695485" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr11:55117468-55124528:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 55117468, - "end": 55124528, - "referenceName": "11", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 55117468, + "end": 55124528, + "chromosome": "11" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr11:55117469-55124528", "cnCount": 1, "cnValue": 0.539263 - } + }, + "updated": "2024-07-24T09:24:38.695491" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr11:55234062-55246555:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 55234062, - "end": 55246555, - "referenceName": "11", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 55234062, + "end": 55246555, + "chromosome": "11" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr11:55234063-55246555", "cnCount": 1, "cnValue": 0.6596 - } + }, + "updated": "2024-07-24T09:24:38.695501" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr11:89231289-89234417:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 89231289, - "end": 89234417, - "referenceName": "11", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 89231289, + "end": 89234417, + "chromosome": "11" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr11:89231290-89234417", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.695508" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr11:96561174-96566395:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 96561174, - "end": 96566395, - "referenceName": "11", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 96561174, + "end": 96566395, + "chromosome": "11" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr11:96561175-96566395", "cnCount": 1, "cnValue": 0.568531 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr12:21355-60453:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 21355, - "end": 60453, - "referenceName": "12", + }, + "updated": "2024-07-24T09:24:38.695531" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr12:21355-60453:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 21355, + "end": 60453, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr12:21356-60453", "cnCount": 6, "cnValue": 2.74283 - } + }, + "updated": "2024-07-24T09:24:38.695541" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:8404340-8406267:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 8404340, - "end": 8406267, - "referenceName": "12", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 8404340, + "end": 8406267, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:8404341-8406267", "cnCount": 1, "cnValue": 0.517465 - } + }, + "updated": "2024-07-24T09:24:38.695549" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:8406267-8427879:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 8406267, - "end": 8427879, - "referenceName": "12", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 8406267, + "end": 8427879, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:8406268-8427879", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.695556" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:8864223-8865835:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 8864223, - "end": 8865835, - "referenceName": "12", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 8864223, + "end": 8865835, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:8864224-8865835", "cnCount": 1, "cnValue": 0.273501 - } + }, + "updated": "2024-07-24T09:24:38.695563" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:9483131-9571424:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 9483131, - "end": 9571424, - "referenceName": "12", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 9483131, + "end": 9571424, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:9483132-9571424", "cnCount": 1, "cnValue": 0.543957 - } + }, + "updated": "2024-07-24T09:24:38.695570" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:11077584-11086467:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 11077584, - "end": 11086467, - "referenceName": "12", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 11077584, + "end": 11086467, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:11077585-11086467", "cnCount": 1, "cnValue": 0.637451 - } + }, + "updated": "2024-07-24T09:24:38.695577" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:11086467-11097740:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 11086467, - "end": 11097740, - "referenceName": "12", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 11086467, + "end": 11097740, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:11086468-11097740", "cnCount": 0, "cnValue": 0.0222744 - } + }, + "updated": "2024-07-24T09:24:38.695586" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:11356471-11391383:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 11356471, - "end": 11391383, - "referenceName": "12", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 11356471, + "end": 11391383, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr12:11356472-11391383", "cnCount": 4, "cnValue": 2.10995 - } + }, + "updated": "2024-07-24T09:24:38.695596" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:11396974-11415257:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 11396974, - "end": 11415257, - "referenceName": "12", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 11396974, + "end": 11415257, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:11396975-11415257", "cnCount": 1, "cnValue": 0.406345 - } + }, + "updated": "2024-07-24T09:24:38.695606" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:15454440-15459644:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 15454440, - "end": 15459644, - "referenceName": "12", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 15454440, + "end": 15459644, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:15454441-15459644", "cnCount": 1, "cnValue": 0.515873 - } + }, + "updated": "2024-07-24T09:24:38.695615" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:16266234-16268354:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 16266234, - "end": 16268354, - "referenceName": "12", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 16266234, + "end": 16268354, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:16266235-16268354", "cnCount": 1, "cnValue": 0.160807 - } + }, + "updated": "2024-07-24T09:24:38.695622" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:29691217-29694285:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 29691217, - "end": 29694285, - "referenceName": "12", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 29691217, + "end": 29694285, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:29691218-29694285", "cnCount": 1, "cnValue": 0.484127 - } + }, + "updated": "2024-07-24T09:24:38.695629" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:33147246-33154442:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 33147246, - "end": 33154442, - "referenceName": "12", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 33147246, + "end": 33154442, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:33147247-33154442", "cnCount": 1, "cnValue": 0.549476 - } + }, + "updated": "2024-07-24T09:24:38.695638" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:40488197-40489685:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 40488197, - "end": 40489685, - "referenceName": "12", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 40488197, + "end": 40489685, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:40488198-40489685", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.695644" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:45508891-45516759:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 45508891, - "end": 45516759, - "referenceName": "12", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 45508891, + "end": 45516759, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:45508892-45516759", "cnCount": 1, "cnValue": 0.575859 - } + }, + "updated": "2024-07-24T09:24:38.695651" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:60127665-60130833:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 60127665, - "end": 60130833, - "referenceName": "12", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 60127665, + "end": 60130833, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:60127666-60130833", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.695665" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:71208215-71210483:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 71208215, - "end": 71210483, - "referenceName": "12", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 71208215, + "end": 71210483, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:71208216-71210483", "cnCount": 1, "cnValue": 0.498415 - } + }, + "updated": "2024-07-24T09:24:38.695672" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:71962570-71964010:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 71962570, - "end": 71964010, - "referenceName": "12", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 71962570, + "end": 71964010, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:71962571-71964010", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.695679" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:81745660-81750660:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 81745660, - "end": 81750660, - "referenceName": "12", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 81745660, + "end": 81750660, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:81745661-81750660", "cnCount": 1, "cnValue": 0.515117 - } + }, + "updated": "2024-07-24T09:24:38.695688" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:84198966-84201966:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 84198966, - "end": 84201966, - "referenceName": "12", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 84198966, + "end": 84201966, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:84198967-84201966", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.695697" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:95616322-95618886:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 95616322, - "end": 95618886, - "referenceName": "12", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 95616322, + "end": 95618886, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:95616323-95618886", "cnCount": 1, "cnValue": 0.554068 - } + }, + "updated": "2024-07-24T09:24:38.695706" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:101708483-101712911:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 101708483, - "end": 101712911, - "referenceName": "12", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 101708483, + "end": 101712911, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:101708484-101712911", "cnCount": 1, "cnValue": 0.544974 - } + }, + "updated": "2024-07-24T09:24:38.695713" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:111537603-111542414:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 111537603, - "end": 111542414, - "referenceName": "12", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 111537603, + "end": 111542414, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:111537604-111542414", "cnCount": 1, "cnValue": 0.597614 - } + }, + "updated": "2024-07-24T09:24:38.695723" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:121513903-121516223:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 121513903, - "end": 121516223, - "referenceName": "12", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 121513903, + "end": 121516223, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:121513904-121516223", "cnCount": 1, "cnValue": 0.562292 - } + }, + "updated": "2024-07-24T09:24:38.695732" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:122261003-122274797:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 122261003, - "end": 122274797, - "referenceName": "12", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 122261003, + "end": 122274797, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr12:122261004-122274797", "cnCount": 3, "cnValue": 1.64193 - } + }, + "updated": "2024-07-24T09:24:38.695742" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:124539962-124542086:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 124539962, - "end": 124542086, - "referenceName": "12", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 124539962, + "end": 124542086, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:124539963-124542086", "cnCount": 1, "cnValue": 0.52694 - } + }, + "updated": "2024-07-24T09:24:38.695749" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:127123091-127125084:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 127123091, - "end": 127125084, - "referenceName": "12", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 127123091, + "end": 127125084, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:127123092-127125084", "cnCount": 0, "cnValue": 0.134076 - } + }, + "updated": "2024-07-24T09:24:38.695756" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:128083004-128085892:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 128083004, - "end": 128085892, - "referenceName": "12", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 128083004, + "end": 128085892, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:128083005-128085892", "cnCount": 1, "cnValue": 0.391808 - } + }, + "updated": "2024-07-24T09:24:38.695763" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:132091713-132095992:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 132091713, - "end": 132095992, - "referenceName": "12", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 132091713, + "end": 132095992, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:132091714-132095992", "cnCount": 1, "cnValue": 0.563233 - } + }, + "updated": "2024-07-24T09:24:38.695769" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr12:132509442-132511729:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 132509442, - "end": 132511729, - "referenceName": "12", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 132509442, + "end": 132511729, + "chromosome": "12" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr12:132509443-132511729", "cnCount": 0, "cnValue": 0.0282286 - } + }, + "updated": "2024-07-24T09:24:38.695776" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr13:18786403-18798236:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 18786403, - "end": 18798236, - "referenceName": "13", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 18786403, + "end": 18798236, + "chromosome": "13" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr13:18786404-18798236", "cnCount": 1, "cnValue": 0.406345 - } + }, + "updated": "2024-07-24T09:24:38.695788" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr13:21476762-21480365:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 21476762, - "end": 21480365, - "referenceName": "13", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 21476762, + "end": 21480365, + "chromosome": "13" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr13:21476763-21480365", "cnCount": 1, "cnValue": 0.507931 - } + }, + "updated": "2024-07-24T09:24:38.695795" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr13:22019381-22022971:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 22019381, - "end": 22022971, - "referenceName": "13", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 22019381, + "end": 22022971, + "chromosome": "13" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr13:22019382-22022971", "cnCount": 1, "cnValue": 0.620844 - } + }, + "updated": "2024-07-24T09:24:38.695802" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr13:23058400-23062975:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 23058400, - "end": 23062975, - "referenceName": "13", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 23058400, + "end": 23062975, + "chromosome": "13" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr13:23058401-23062975", "cnCount": 1, "cnValue": 0.526806 - } + }, + "updated": "2024-07-24T09:24:38.695813" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr13:26474791-26477887:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 26474791, - "end": 26477887, - "referenceName": "13", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 26474791, + "end": 26477887, + "chromosome": "13" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr13:26474792-26477887", "cnCount": 1, "cnValue": 0.452182 - } + }, + "updated": "2024-07-24T09:24:38.695819" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr13:37498284-37511414:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 37498284, - "end": 37511414, - "referenceName": "13", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 37498284, + "end": 37511414, + "chromosome": "13" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr13:37498285-37511414", "cnCount": 1, "cnValue": 0.478531 - } + }, + "updated": "2024-07-24T09:24:38.695827" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr13:41399286-41401032:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 41399286, - "end": 41401032, - "referenceName": "13", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 41399286, + "end": 41401032, + "chromosome": "13" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr13:41399287-41401032", "cnCount": 0, "cnValue": 0.0774743 - } + }, + "updated": "2024-07-24T09:24:38.695836" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr13:48958920-48962320:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 48958920, - "end": 48962320, - "referenceName": "13", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 48958920, + "end": 48962320, + "chromosome": "13" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr13:48958921-48962320", "cnCount": 1, "cnValue": 0.527195 - } + }, + "updated": "2024-07-24T09:24:38.695843" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr13:50494891-50500279:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 50494891, - "end": 50500279, - "referenceName": "13", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 50494891, + "end": 50500279, + "chromosome": "13" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr13:50494892-50500279", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.695850" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr13:50500279-50501301:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 50500279, - "end": 50501301, - "referenceName": "13", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 50500279, + "end": 50501301, + "chromosome": "13" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr13:50500280-50501301", "cnCount": 1, "cnValue": 0.357143 - } + }, + "updated": "2024-07-24T09:24:38.695859" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr13:71902602-71905696:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 71902602, - "end": 71905696, - "referenceName": "13", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 71902602, + "end": 71905696, + "chromosome": "13" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr13:71902603-71905696", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.695865" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr13:72318854-72324943:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 72318854, - "end": 72324943, - "referenceName": "13", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 72318854, + "end": 72324943, + "chromosome": "13" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr13:72318855-72324943", "cnCount": 1, "cnValue": 0.575859 - } + }, + "updated": "2024-07-24T09:24:38.695874" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr13:86201272-86202734:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 86201272, - "end": 86202734, - "referenceName": "13", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 86201272, + "end": 86202734, + "chromosome": "13" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr13:86201273-86202734", "cnCount": 1, "cnValue": 0.19867 - } + }, + "updated": "2024-07-24T09:24:38.695884" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr13:90210757-90211757:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 90210757, - "end": 90211757, - "referenceName": "13", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 90210757, + "end": 90211757, + "chromosome": "13" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr13:90210758-90211757", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.695890" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr13:90211757-90212757:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 90211757, - "end": 90212757, - "referenceName": "13", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 90211757, + "end": 90212757, + "chromosome": "13" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr13:90211758-90212757", "cnCount": 1, "cnValue": 0.23521 - } + }, + "updated": "2024-07-24T09:24:38.695897" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr13:98601063-98606406:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 98601063, - "end": 98606406, - "referenceName": "13", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 98601063, + "end": 98606406, + "chromosome": "13" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr13:98601064-98606406", "cnCount": 1, "cnValue": 0.606092 - } + }, + "updated": "2024-07-24T09:24:38.695904" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr13:101241138-101244374:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 101241138, - "end": 101244374, - "referenceName": "13", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 101241138, + "end": 101244374, + "chromosome": "13" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr13:101241139-101244374", "cnCount": 1, "cnValue": 0.570446 - } + }, + "updated": "2024-07-24T09:24:38.695915" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr13:108294163-108299586:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 108294163, - "end": 108299586, - "referenceName": "13", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 108294163, + "end": 108299586, + "chromosome": "13" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr13:108294164-108299586", "cnCount": 1, "cnValue": 0.494752 - } + }, + "updated": "2024-07-24T09:24:38.695922" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr13:109216023-109219727:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 109216023, - "end": 109219727, - "referenceName": "13", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 109216023, + "end": 109219727, + "chromosome": "13" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr13:109216024-109219727", "cnCount": 1, "cnValue": 0.641653 - } + }, + "updated": "2024-07-24T09:24:38.695931" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr13:112275596-112277666:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 112275596, - "end": 112277666, - "referenceName": "13", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 112275596, + "end": 112277666, + "chromosome": "13" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr13:112275597-112277666", "cnCount": 1, "cnValue": 0.273753 - } + }, + "updated": "2024-07-24T09:24:38.695938" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr13:112317296-112318774:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 112317296, - "end": 112318774, - "referenceName": "13", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 112317296, + "end": 112318774, + "chromosome": "13" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr13:112317297-112318774", "cnCount": 0, "cnValue": 0.106558 - } + }, + "updated": "2024-07-24T09:24:38.695945" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr13:114154011-114156100:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 114154011, - "end": 114156100, - "referenceName": "13", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 114154011, + "end": 114156100, + "chromosome": "13" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr13:114154012-114156100", "cnCount": 1, "cnValue": 0.330488 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr14:16095815-16125493:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 16095815, - "end": 16125493, - "referenceName": "14", + }, + "updated": "2024-07-24T09:24:38.695952" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr14:16095815-16125493:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 16095815, + "end": 16125493, + "chromosome": "14" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr14:16095816-16125493", "cnCount": 7, "cnValue": 3.61385 - } + }, + "updated": "2024-07-24T09:24:38.695959" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr14:18656545-18662386:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 18656545, - "end": 18662386, - "referenceName": "14", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 18656545, + "end": 18662386, + "chromosome": "14" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr14:18656546-18662386", "cnCount": 4, "cnValue": 1.9441 - } + }, + "updated": "2024-07-24T09:24:38.695969" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr14:19725008-19956408:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 19725008, - "end": 19956408, - "referenceName": "14", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 19725008, + "end": 19956408, + "chromosome": "14" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr14:19725009-19956408", "cnCount": 3, "cnValue": 1.48901 - } + }, + "updated": "2024-07-24T09:24:38.695978" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr14:21484570-21486269:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 21484570, - "end": 21486269, - "referenceName": "14", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 21484570, + "end": 21486269, + "chromosome": "14" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr14:21484571-21486269", "cnCount": 1, "cnValue": 0.303086 - } + }, + "updated": "2024-07-24T09:24:38.695985" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr14:34044415-34045449:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 34044415, - "end": 34045449, - "referenceName": "14", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 34044415, + "end": 34045449, + "chromosome": "14" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr14:34044416-34045449", "cnCount": 0, "cnValue": 0.140658 - } + }, + "updated": "2024-07-24T09:24:38.695992" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr14:37299747-37300807:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 37299747, - "end": 37300807, - "referenceName": "14", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 37299747, + "end": 37300807, + "chromosome": "14" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr14:37299748-37300807", "cnCount": 1, "cnValue": 0.281704 - } + }, + "updated": "2024-07-24T09:24:38.695999" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr14:37300807-37301824:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 37300807, - "end": 37301824, - "referenceName": "14", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 37300807, + "end": 37301824, + "chromosome": "14" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr14:37300808-37301824", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.696005" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr14:37530936-37546632:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 37530936, - "end": 37546632, - "referenceName": "14", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 37530936, + "end": 37546632, + "chromosome": "14" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr14:37530937-37546632", "cnCount": 3, "cnValue": 1.44575 - } + }, + "updated": "2024-07-24T09:24:38.696015" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr14:49019945-49022945:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 49019945, - "end": 49022945, - "referenceName": "14", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 49019945, + "end": 49022945, + "chromosome": "14" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr14:49019946-49022945", "cnCount": 1, "cnValue": 0.531214 - } + }, + "updated": "2024-07-24T09:24:38.696024" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr14:54243160-54247226:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 54243160, - "end": 54247226, - "referenceName": "14", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 54243160, + "end": 54247226, + "chromosome": "14" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr14:54243161-54247226", "cnCount": 1, "cnValue": 0.531331 - } + }, + "updated": "2024-07-24T09:24:38.696031" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr14:63395378-63396459:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 63395378, - "end": 63396459, - "referenceName": "14", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 63395378, + "end": 63396459, + "chromosome": "14" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr14:63395379-63396459", "cnCount": 1, "cnValue": 0.354319 - } + }, + "updated": "2024-07-24T09:24:38.696037" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr14:68135824-68137080:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 68135824, - "end": 68137080, - "referenceName": "14", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 68135824, + "end": 68137080, + "chromosome": "14" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr14:68135825-68137080", "cnCount": 1, "cnValue": 0.230159 - } + }, + "updated": "2024-07-24T09:24:38.696044" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr14:70221059-70223059:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 70221059, - "end": 70223059, - "referenceName": "14", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 70221059, + "end": 70223059, + "chromosome": "14" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr14:70221060-70223059", "cnCount": 1, "cnValue": 0.526252 - } + }, + "updated": "2024-07-24T09:24:38.696053" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr14:79639437-79648769:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 79639437, - "end": 79648769, - "referenceName": "14", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 79639437, + "end": 79648769, + "chromosome": "14" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr14:79639438-79648769", "cnCount": 1, "cnValue": 0.507937 - } + }, + "updated": "2024-07-24T09:24:38.696060" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr14:82032712-82036718:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 82032712, - "end": 82036718, - "referenceName": "14", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 82032712, + "end": 82036718, + "chromosome": "14" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr14:82032713-82036718", "cnCount": 1, "cnValue": 0.521256 - } + }, + "updated": "2024-07-24T09:24:38.696069" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr14:101781835-101783186:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 101781835, - "end": 101783186, - "referenceName": "14", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 101781835, + "end": 101783186, + "chromosome": "14" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr14:101781836-101783186", "cnCount": 1, "cnValue": 0.253085 - } + }, + "updated": "2024-07-24T09:24:38.696075" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr14:105616868-105633798:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 105616868, - "end": 105633798, - "referenceName": "14", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 105616868, + "end": 105633798, + "chromosome": "14" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr14:105616869-105633798", "cnCount": 4, "cnValue": 1.96727 - } + }, + "updated": "2024-07-24T09:24:38.696083" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr14:105864139-105916105:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 105864139, - "end": 105916105, - "referenceName": "14", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 105864139, + "end": 105916105, + "chromosome": "14" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr14:105864140-105916105", "cnCount": 0, "cnValue": 0.105926 - } + }, + "updated": "2024-07-24T09:24:38.696092" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr14:105916105-106113253:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 105916105, - "end": 106113253, - "referenceName": "14", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 105916105, + "end": 106113253, + "chromosome": "14" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr14:105916106-106113253", "cnCount": 1, "cnValue": 0.366196 - } + }, + "updated": "2024-07-24T09:24:38.696100" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr14:106113253-106260711:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 106113253, - "end": 106260711, - "referenceName": "14", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 106113253, + "end": 106260711, + "chromosome": "14" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr14:106113254-106260711", "cnCount": 1, "cnValue": 0.555556 - } + }, + "updated": "2024-07-24T09:24:38.696117" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr14:106718609-106760231:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 106718609, - "end": 106760231, - "referenceName": "14", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 106718609, + "end": 106760231, + "chromosome": "14" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr14:106718610-106760231", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.696130" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr15:20240418-20374974:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 20240418, - "end": 20374974, - "referenceName": "15", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 20240418, + "end": 20374974, + "chromosome": "15" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr15:20240419-20374974", "cnCount": 4, "cnValue": 1.8952 - } + }, + "updated": "2024-07-24T09:24:38.696137" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr15:20384690-20421447:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 20384690, - "end": 20421447, - "referenceName": "15", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 20384690, + "end": 20421447, + "chromosome": "15" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr15:20384691-20421447", "cnCount": 4, "cnValue": 1.95659 - } + }, + "updated": "2024-07-24T09:24:38.696144" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr15:20644607-21272449:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 20644607, - "end": 21272449, - "referenceName": "15", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 20644607, + "end": 21272449, + "chromosome": "15" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr15:20644608-21272449", "cnCount": 4, "cnValue": 2.02202 - } + }, + "updated": "2024-07-24T09:24:38.696154" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr15:24108636-24259987:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 24108636, - "end": 24259987, - "referenceName": "15", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 24108636, + "end": 24259987, + "chromosome": "15" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr15:24108637-24259987", "cnCount": 1, "cnValue": 0.50358 - } + }, + "updated": "2024-07-24T09:24:38.696161" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr15:28455866-28463953:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 28455866, - "end": 28463953, - "referenceName": "15", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 28455866, + "end": 28463953, + "chromosome": "15" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr15:28455867-28463953", "cnCount": 4, "cnValue": 2.01933 - } + }, + "updated": "2024-07-24T09:24:38.696168" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr15:49252227-49257241:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 49252227, - "end": 49257241, - "referenceName": "15", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 49252227, + "end": 49257241, + "chromosome": "15" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr15:49252228-49257241", "cnCount": 1, "cnValue": 0.560432 - } + }, + "updated": "2024-07-24T09:24:38.696177" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr15:72093381-72095731:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 72093381, - "end": 72095731, - "referenceName": "15", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 72093381, + "end": 72095731, + "chromosome": "15" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr15:72093382-72095731", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.696184" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr15:76591541-76602174:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 76591541, - "end": 76602174, - "referenceName": "15", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 76591541, + "end": 76602174, + "chromosome": "15" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr15:76591542-76602174", "cnCount": 1, "cnValue": 0.510974 - } + }, + "updated": "2024-07-24T09:24:38.696191" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr15:77037885-77039919:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 77037885, - "end": 77039919, - "referenceName": "15", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 77037885, + "end": 77039919, + "chromosome": "15" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr15:77037886-77039919", "cnCount": 1, "cnValue": 0.394686 - } + }, + "updated": "2024-07-24T09:24:38.696198" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr15:85512589-85515800:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 85512589, - "end": 85515800, - "referenceName": "15", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 85512589, + "end": 85515800, + "chromosome": "15" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr15:85512590-85515800", "cnCount": 1, "cnValue": 0.632634 - } + }, + "updated": "2024-07-24T09:24:38.696204" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr15:98355719-98358019:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 98355719, - "end": 98358019, - "referenceName": "15", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 98355719, + "end": 98358019, + "chromosome": "15" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr15:98355720-98358019", "cnCount": 1, "cnValue": 0.448275 - } + }, + "updated": "2024-07-24T09:24:38.696211" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr15:99030742-99033139:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 99030742, - "end": 99033139, - "referenceName": "15", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 99030742, + "end": 99033139, + "chromosome": "15" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr15:99030743-99033139", "cnCount": 1, "cnValue": 0.325009 - } + }, + "updated": "2024-07-24T09:24:38.696220" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr15:99876386-99881181:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 99876386, - "end": 99881181, - "referenceName": "15", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 99876386, + "end": 99881181, + "chromosome": "15" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr15:99876387-99881181", "cnCount": 1, "cnValue": 0.571231 - } + }, + "updated": "2024-07-24T09:24:38.696230" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:14955099-14956377:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 14955099, - "end": 14956377, - "referenceName": "16", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 14955099, + "end": 14956377, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr16:14955100-14956377", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.696239" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:14956377-15025520:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 14956377, - "end": 15025520, - "referenceName": "16", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 14956377, + "end": 15025520, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr16:14956378-15025520", "cnCount": 1, "cnValue": 0.512905 - } + }, + "updated": "2024-07-24T09:24:38.696246" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:15029974-15147032:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 15029974, - "end": 15147032, - "referenceName": "16", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 15029974, + "end": 15147032, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr16:15029975-15147032", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.696253" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:16630673-16638388:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 16630673, - "end": 16638388, - "referenceName": "16", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 16630673, + "end": 16638388, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr16:16630674-16638388", "cnCount": 4, "cnValue": 1.80057 - } + }, + "updated": "2024-07-24T09:24:38.696263" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:21523927-21582340:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 21523927, - "end": 21582340, - "referenceName": "16", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 21523927, + "end": 21582340, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr16:21523928-21582340", "cnCount": 4, "cnValue": 2.11768 - } + }, + "updated": "2024-07-24T09:24:38.696273" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:22614198-22699294:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 22614198, - "end": 22699294, - "referenceName": "16", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 22614198, + "end": 22699294, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr16:22614199-22699294", "cnCount": 4, "cnValue": 2.0119 - } + }, + "updated": "2024-07-24T09:24:38.696280" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:23036171-23038171:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 23036171, - "end": 23038171, - "referenceName": "16", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 23036171, + "end": 23038171, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr16:23036172-23038171", "cnCount": 0, "cnValue": 4.8885e-06 - } + }, + "updated": "2024-07-24T09:24:38.696290" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:25328342-25331450:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 25328342, - "end": 25331450, - "referenceName": "16", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 25328342, + "end": 25331450, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr16:25328343-25331450", "cnCount": 1, "cnValue": 0.547003 - } + }, + "updated": "2024-07-24T09:24:38.696296" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:34061561-34065725:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 34061561, - "end": 34065725, - "referenceName": "16", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 34061561, + "end": 34065725, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr16:34061562-34065725", "cnCount": 4, "cnValue": 1.92063 - } + }, + "updated": "2024-07-24T09:24:38.696307" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:34163416-34185511:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 34163416, - "end": 34185511, - "referenceName": "16", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 34163416, + "end": 34185511, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr16:34163417-34185511", "cnCount": 4, "cnValue": 1.99608 - } + }, + "updated": "2024-07-24T09:24:38.696314" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:35232011-35522512:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 35232011, - "end": 35522512, - "referenceName": "16", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 35232011, + "end": 35522512, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr16:35232012-35522512", "cnCount": 3, "cnValue": 1.43559 - } + }, + "updated": "2024-07-24T09:24:38.696323" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:36123036-36125764:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 36123036, - "end": 36125764, - "referenceName": "16", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 36123036, + "end": 36125764, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr16:36123037-36125764", "cnCount": 4, "cnValue": 2.20472 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr16:46400702-46402358:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 46400702, - "end": 46402358, - "referenceName": "16", + }, + "updated": "2024-07-24T09:24:38.696335" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr16:46400702-46402358:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 46400702, + "end": 46402358, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr16:46400703-46402358", "cnCount": 182, "cnValue": 91.2239 - } + }, + "updated": "2024-07-24T09:24:38.696345" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:48474158-48478054:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 48474158, - "end": 48478054, - "referenceName": "16", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 48474158, + "end": 48478054, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr16:48474159-48478054", "cnCount": 1, "cnValue": 0.708285 - } + }, + "updated": "2024-07-24T09:24:38.696356" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:55762444-55787681:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 55762444, - "end": 55787681, - "referenceName": "16", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 55762444, + "end": 55787681, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr16:55762445-55787681", "cnCount": 1, "cnValue": 0.498406 - } + }, + "updated": "2024-07-24T09:24:38.696363" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:55809358-55817468:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 55809358, - "end": 55817468, - "referenceName": "16", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 55809358, + "end": 55817468, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr16:55809359-55817468", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.696370" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:55817468-55820649:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 55817468, - "end": 55820649, - "referenceName": "16", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 55817468, + "end": 55820649, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr16:55817469-55820649", "cnCount": 1, "cnValue": 0.513971 - } + }, + "updated": "2024-07-24T09:24:38.696379" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:55820649-55835022:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 55820649, - "end": 55835022, - "referenceName": "16", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 55820649, + "end": 55835022, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr16:55820650-55835022", "cnCount": 3, "cnValue": 1.34886 - } + }, + "updated": "2024-07-24T09:24:38.696387" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:58613042-58616857:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 58613042, - "end": 58616857, - "referenceName": "16", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 58613042, + "end": 58616857, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr16:58613043-58616857", "cnCount": 1, "cnValue": 0.570844 - } + }, + "updated": "2024-07-24T09:24:38.696394" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:58638850-58644345:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 58638850, - "end": 58644345, - "referenceName": "16", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 58638850, + "end": 58644345, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr16:58638851-58644345", "cnCount": 1, "cnValue": 0.524901 - } + }, + "updated": "2024-07-24T09:24:38.696401" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:70150110-70164381:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 70150110, - "end": 70164381, - "referenceName": "16", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 70150110, + "end": 70164381, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr16:70150111-70164381", "cnCount": 4, "cnValue": 2.12273 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr16:74364064-74373443:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 74364064, - "end": 74373443, - "referenceName": "16", + }, + "updated": "2024-07-24T09:24:38.696408" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr16:74364064-74373443:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 74364064, + "end": 74373443, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr16:74364065-74373443", "cnCount": 5, "cnValue": 2.48025 - } + }, + "updated": "2024-07-24T09:24:38.696415" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:75395308-75396776:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 75395308, - "end": 75396776, - "referenceName": "16", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 75395308, + "end": 75396776, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr16:75395309-75396776", "cnCount": 1, "cnValue": 0.210987 - } + }, + "updated": "2024-07-24T09:24:38.696424" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:76505150-76509577:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 76505150, - "end": 76509577, - "referenceName": "16", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 76505150, + "end": 76509577, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr16:76505151-76509577", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.696433" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:76509577-76510577:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 76509577, - "end": 76510577, - "referenceName": "16", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 76509577, + "end": 76510577, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr16:76509578-76510577", "cnCount": 1, "cnValue": 0.413645 - } + }, + "updated": "2024-07-24T09:24:38.696440" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:78337685-78351010:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 78337685, - "end": 78351010, - "referenceName": "16", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 78337685, + "end": 78351010, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr16:78337686-78351010", "cnCount": 1, "cnValue": 0.490971 - } + }, + "updated": "2024-07-24T09:24:38.696449" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:84467183-84470759:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 84467183, - "end": 84470759, - "referenceName": "16", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 84467183, + "end": 84470759, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr16:84467184-84470759", "cnCount": 1, "cnValue": 0.539683 - } + }, + "updated": "2024-07-24T09:24:38.696456" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:88078435-88082431:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 88078435, - "end": 88082431, - "referenceName": "16", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 88078435, + "end": 88082431, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr16:88078436-88082431", "cnCount": 1, "cnValue": 0.656404 - } + }, + "updated": "2024-07-24T09:24:38.696463" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr16:89829062-89832567:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 89829062, - "end": 89832567, - "referenceName": "16", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 89829062, + "end": 89832567, + "chromosome": "16" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr16:89829063-89832567", "cnCount": 1, "cnValue": 0.589934 - } + }, + "updated": "2024-07-24T09:24:38.696472" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr17:14286041-14288260:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 14286041, - "end": 14288260, - "referenceName": "17", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 14286041, + "end": 14288260, + "chromosome": "17" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr17:14286042-14288260", "cnCount": 1, "cnValue": 0.196015 - } + }, + "updated": "2024-07-24T09:24:38.696481" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr17:21290258-21304502:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 21290258, - "end": 21304502, - "referenceName": "17", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 21290258, + "end": 21304502, + "chromosome": "17" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr17:21290259-21304502", "cnCount": 4, "cnValue": 1.80166 - } + }, + "updated": "2024-07-24T09:24:38.696488" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr17:21663136-21825807:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 21663136, - "end": 21825807, - "referenceName": "17", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 21663136, + "end": 21825807, + "chromosome": "17" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr17:21663137-21825807", "cnCount": 3, "cnValue": 1.62278 - } + }, + "updated": "2024-07-24T09:24:38.696495" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr17:21883884-21968030:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 21883884, - "end": 21968030, - "referenceName": "17", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 21883884, + "end": 21968030, + "chromosome": "17" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr17:21883885-21968030", "cnCount": 1, "cnValue": 0.492063 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr17:22122904-22158839:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 22122904, - "end": 22158839, - "referenceName": "17", + }, + "updated": "2024-07-24T09:24:38.696502" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr17:22122904-22158839:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 22122904, + "end": 22158839, + "chromosome": "17" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr17:22122905-22158839", "cnCount": 5, "cnValue": 2.58731 - } + }, + "updated": "2024-07-24T09:24:38.696510" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr17:26809249-26825779:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 26809249, - "end": 26825779, - "referenceName": "17", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 26809249, + "end": 26825779, + "chromosome": "17" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr17:26809250-26825779", "cnCount": 3, "cnValue": 1.32259 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr17:26865555-26867950:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 26865555, - "end": 26867950, - "referenceName": "17", + }, + "updated": "2024-07-24T09:24:38.696522" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr17:26865555-26867950:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 26865555, + "end": 26867950, + "chromosome": "17" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr17:26865556-26867950", "cnCount": 5, "cnValue": 2.48527 - } + }, + "updated": "2024-07-24T09:24:38.696529" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr17:26878531-26989474:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 26878531, - "end": 26989474, - "referenceName": "17", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 26878531, + "end": 26989474, + "chromosome": "17" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr17:26878532-26989474", "cnCount": 3, "cnValue": 1.60317 - } + }, + "updated": "2024-07-24T09:24:38.696536" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr17:32523950-32542324:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 32523950, - "end": 32542324, - "referenceName": "17", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 32523950, + "end": 32542324, + "chromosome": "17" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr17:32523951-32542324", "cnCount": 1, "cnValue": 0.52044 - } + }, + "updated": "2024-07-24T09:24:38.696543" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr17:36109484-36155125:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 36109484, - "end": 36155125, - "referenceName": "17", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 36109484, + "end": 36155125, + "chromosome": "17" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr17:36109485-36155125", "cnCount": 3, "cnValue": 1.56349 - } + }, + "updated": "2024-07-24T09:24:38.696552" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr17:36187550-36459198:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 36187550, - "end": 36459198, - "referenceName": "17", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 36187550, + "end": 36459198, + "chromosome": "17" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr17:36187551-36459198", "cnCount": 1, "cnValue": 0.554817 - } + }, + "updated": "2024-07-24T09:24:38.696559" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr17:41265352-41275380:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 41265352, - "end": 41275380, - "referenceName": "17", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 41265352, + "end": 41275380, + "chromosome": "17" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr17:41265353-41275380", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.696569" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr17:45574049-45584802:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 45574049, - "end": 45584802, - "referenceName": "17", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 45574049, + "end": 45584802, + "chromosome": "17" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr17:45574050-45584802", "cnCount": 1, "cnValue": 0.547619 - } + }, + "updated": "2024-07-24T09:24:38.696576" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr17:46135514-46216829:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 46135514, - "end": 46216829, - "referenceName": "17", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 46135514, + "end": 46216829, + "chromosome": "17" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr17:46135515-46216829", "cnCount": 3, "cnValue": 1.56468 - } + }, + "updated": "2024-07-24T09:24:38.696589" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr17:46261197-46280394:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 46261197, - "end": 46280394, - "referenceName": "17", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 46261197, + "end": 46280394, + "chromosome": "17" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr17:46261198-46280394", "cnCount": 1, "cnValue": 0.485372 - } + }, + "updated": "2024-07-24T09:24:38.696596" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr17:76365117-76368794:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 76365117, - "end": 76368794, - "referenceName": "17", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 76365117, + "end": 76368794, + "chromosome": "17" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr17:76365118-76368794", "cnCount": 1, "cnValue": 0.547034 - } + }, + "updated": "2024-07-24T09:24:38.696603" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr18:5324168-5326408:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 5324168, - "end": 5326408, - "referenceName": "18", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 5324168, + "end": 5326408, + "chromosome": "18" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr18:5324169-5326408", "cnCount": 0, "cnValue": 0.147751 - } + }, + "updated": "2024-07-24T09:24:38.696612" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr18:29594743-29596073:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 29594743, - "end": 29596073, - "referenceName": "18", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 29594743, + "end": 29596073, + "chromosome": "18" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr18:29594744-29596073", "cnCount": 0, "cnValue": 0.0258248 - } + }, + "updated": "2024-07-24T09:24:38.696622" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr18:41284066-41287341:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 41284066, - "end": 41287341, - "referenceName": "18", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 41284066, + "end": 41287341, + "chromosome": "18" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr18:41284067-41287341", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.696629" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr18:41287341-41288522:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 41287341, - "end": 41288522, - "referenceName": "18", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 41287341, + "end": 41288522, + "chromosome": "18" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr18:41287342-41288522", "cnCount": 1, "cnValue": 0.241461 - } + }, + "updated": "2024-07-24T09:24:38.696635" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr18:50167762-50171784:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 50167762, - "end": 50171784, - "referenceName": "18", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 50167762, + "end": 50171784, + "chromosome": "18" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr18:50167763-50171784", "cnCount": 1, "cnValue": 0.56985 - } + }, + "updated": "2024-07-24T09:24:38.696645" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr18:57279436-57281436:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 57279436, - "end": 57281436, - "referenceName": "18", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 57279436, + "end": 57281436, + "chromosome": "18" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr18:57279437-57281436", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.696652" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr18:66056857-66064859:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 66056857, - "end": 66064859, - "referenceName": "18", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 66056857, + "end": 66064859, + "chromosome": "18" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr18:66056858-66064859", "cnCount": 1, "cnValue": 0.498791 - } + }, + "updated": "2024-07-24T09:24:38.696661" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr18:66098923-66101923:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 66098923, - "end": 66101923, - "referenceName": "18", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 66098923, + "end": 66101923, + "chromosome": "18" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr18:66098924-66101923", "cnCount": 1, "cnValue": 0.450727 - } + }, + "updated": "2024-07-24T09:24:38.696673" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr18:78902406-78906442:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 78902406, - "end": 78906442, - "referenceName": "18", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 78902406, + "end": 78906442, + "chromosome": "18" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr18:78902407-78906442", "cnCount": 1, "cnValue": 0.51579 - } + }, + "updated": "2024-07-24T09:24:38.697152" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr19:566719-571123:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 566719, - "end": 571123, - "referenceName": "19", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 566719, + "end": 571123, + "chromosome": "19" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr19:566720-571123", "cnCount": 1, "cnValue": 0.414425 - } + }, + "updated": "2024-07-24T09:24:38.697167" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr19:2909188-2910601:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 2909188, - "end": 2910601, - "referenceName": "19", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 2909188, + "end": 2910601, + "chromosome": "19" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr19:2909189-2910601", "cnCount": 0, "cnValue": 0.023443 - } + }, + "updated": "2024-07-24T09:24:38.697176" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr19:4218094-4224855:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 4218094, - "end": 4224855, - "referenceName": "19", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 4218094, + "end": 4224855, + "chromosome": "19" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr19:4218095-4224855", "cnCount": 4, "cnValue": 1.96637 - } + }, + "updated": "2024-07-24T09:24:38.697185" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr19:12583350-12584828:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 12583350, - "end": 12584828, - "referenceName": "19", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 12583350, + "end": 12584828, + "chromosome": "19" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr19:12583351-12584828", "cnCount": 1, "cnValue": 0.34383 - } + }, + "updated": "2024-07-24T09:24:38.697193" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr19:12584828-12587264:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 12584828, - "end": 12587264, - "referenceName": "19", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 12584828, + "end": 12587264, + "chromosome": "19" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr19:12584829-12587264", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.697201" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr19:14934619-14936115:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 14934619, - "end": 14936115, - "referenceName": "19", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 14934619, + "end": 14936115, + "chromosome": "19" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr19:14934620-14936115", "cnCount": 1, "cnValue": 0.404762 - } + }, + "updated": "2024-07-24T09:24:38.697209" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr19:14936115-14938516:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 14936115, - "end": 14938516, - "referenceName": "19", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 14936115, + "end": 14938516, + "chromosome": "19" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr19:14936116-14938516", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.697216" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr19:24330586-24907579:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 24330586, - "end": 24907579, - "referenceName": "19", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 24330586, + "end": 24907579, + "chromosome": "19" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr19:24330587-24907579", "cnCount": 4, "cnValue": 2.04839 - } + }, + "updated": "2024-07-24T09:24:38.697224" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr19:27337379-27341354:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 27337379, - "end": 27341354, - "referenceName": "19", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 27337379, + "end": 27341354, + "chromosome": "19" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr19:27337380-27341354", "cnCount": 3, "cnValue": 1.69828 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr19:27345304-27398490:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 27345304, - "end": 27398490, - "referenceName": "19", + }, + "updated": "2024-07-24T09:24:38.697232" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr19:27345304-27398490:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 27345304, + "end": 27398490, + "chromosome": "19" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr19:27345305-27398490", "cnCount": 5, "cnValue": 2.71241 - } + }, + "updated": "2024-07-24T09:24:38.697240" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr19:27398490-27407583:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 27398490, - "end": 27407583, - "referenceName": "19", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 27398490, + "end": 27407583, + "chromosome": "19" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr19:27398491-27407583", "cnCount": 3, "cnValue": 1.54119 - } + }, + "updated": "2024-07-24T09:24:38.697247" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr19:27470034-27472518:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 27470034, - "end": 27472518, - "referenceName": "19", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 27470034, + "end": 27472518, + "chromosome": "19" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr19:27470035-27472518", "cnCount": 0, "cnValue": 0.0788608 - } + }, + "updated": "2024-07-24T09:24:38.697254" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr19:35361421-35370444:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 35361421, - "end": 35370444, - "referenceName": "19", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 35361421, + "end": 35370444, + "chromosome": "19" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr19:35361422-35370444", "cnCount": 1, "cnValue": 0.523165 - } + }, + "updated": "2024-07-24T09:24:38.697261" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr19:37850224-37854197:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 37850224, - "end": 37854197, - "referenceName": "19", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 37850224, + "end": 37854197, + "chromosome": "19" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr19:37850225-37854197", "cnCount": 1, "cnValue": 0.625146 - } + }, + "updated": "2024-07-24T09:24:38.697268" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr19:44667152-44669749:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 44667152, - "end": 44669749, - "referenceName": "19", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 44667152, + "end": 44669749, + "chromosome": "19" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr19:44667153-44669749", "cnCount": 1, "cnValue": 0.486765 - } + }, + "updated": "2024-07-24T09:24:38.697275" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr19:50902542-50905328:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 50902542, - "end": 50905328, - "referenceName": "19", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 50902542, + "end": 50905328, + "chromosome": "19" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr19:50902543-50905328", "cnCount": 1, "cnValue": 0.265817 - } + }, + "updated": "2024-07-24T09:24:38.697282" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr19:51630700-51645485:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 51630700, - "end": 51645485, - "referenceName": "19", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 51630700, + "end": 51645485, + "chromosome": "19" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr19:51630701-51645485", "cnCount": 1, "cnValue": 0.484488 - } + }, + "updated": "2024-07-24T09:24:38.697289" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr19:54051194-54056957:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 54051194, - "end": 54056957, - "referenceName": "19", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 54051194, + "end": 54056957, + "chromosome": "19" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr19:54051195-54056957", "cnCount": 1, "cnValue": 0.507931 - } + }, + "updated": "2024-07-24T09:24:38.697296" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr19:54738520-54783368:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 54738520, - "end": 54783368, - "referenceName": "19", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 54738520, + "end": 54783368, + "chromosome": "19" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr19:54738521-54783368", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.697303" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr19:54785485-54790112:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 54785485, - "end": 54790112, - "referenceName": "19", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 54785485, + "end": 54790112, + "chromosome": "19" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr19:54785486-54790112", "cnCount": 1, "cnValue": 0.563233 - } + }, + "updated": "2024-07-24T09:24:38.697311" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr19:54790112-54792159:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 54790112, - "end": 54792159, - "referenceName": "19", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 54790112, + "end": 54792159, + "chromosome": "19" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr19:54790113-54792159", "cnCount": 0, "cnValue": 0.033605 - } + }, + "updated": "2024-07-24T09:24:38.697318" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr20:61182-67509:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 61182, - "end": 67509, - "referenceName": "20", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 61182, + "end": 67509, + "chromosome": "20" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr20:61183-67509", "cnCount": 3, "cnValue": 1.38525 - } + }, + "updated": "2024-07-24T09:24:38.697353" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr20:1408351-1409439:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 1408351, - "end": 1409439, - "referenceName": "20", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 1408351, + "end": 1409439, + "chromosome": "20" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr20:1408352-1409439", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.697361" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr20:1409439-1410439:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 1409439, - "end": 1410439, - "referenceName": "20", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 1409439, + "end": 1410439, + "chromosome": "20" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr20:1409440-1410439", "cnCount": 1, "cnValue": 0.327284 - } + }, + "updated": "2024-07-24T09:24:38.697369" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr20:1580151-1613199:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 1580151, - "end": 1613199, - "referenceName": "20", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 1580151, + "end": 1613199, + "chromosome": "20" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr20:1580152-1613199", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.697383" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr20:5647329-5650338:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 5647329, - "end": 5650338, - "referenceName": "20", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 5647329, + "end": 5650338, + "chromosome": "20" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr20:5647330-5650338", "cnCount": 1, "cnValue": 0.474405 - } + }, + "updated": "2024-07-24T09:24:38.697390" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr20:15730162-15732479:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 15730162, - "end": 15732479, - "referenceName": "20", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 15730162, + "end": 15732479, + "chromosome": "20" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr20:15730163-15732479", "cnCount": 1, "cnValue": 0.425687 - } + }, + "updated": "2024-07-24T09:24:38.697397" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr20:21305534-21307218:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 21305534, - "end": 21307218, - "referenceName": "20", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 21305534, + "end": 21307218, + "chromosome": "20" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr20:21305535-21307218", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.697404" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr20:21307218-21308467:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 21307218, - "end": 21308467, - "referenceName": "20", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 21307218, + "end": 21308467, + "chromosome": "20" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr20:21307219-21308467", "cnCount": 1, "cnValue": 0.396825 - } + }, + "updated": "2024-07-24T09:24:38.697411" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr20:26316474-26321369:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 26316474, - "end": 26321369, - "referenceName": "20", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 26316474, + "end": 26321369, + "chromosome": "20" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr20:26316475-26321369", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.697420" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr20:28558287-28786092:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 28558287, - "end": 28786092, - "referenceName": "20", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 28558287, + "end": 28786092, + "chromosome": "20" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr20:28558288-28786092", "cnCount": 4, "cnValue": 2.125 - } + }, + "updated": "2024-07-24T09:24:38.697431" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr20:28803390-28873078:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 28803390, - "end": 28873078, - "referenceName": "20", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 28803390, + "end": 28873078, + "chromosome": "20" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr20:28803391-28873078", "cnCount": 3, "cnValue": 1.69597 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr20:29055193-29124866:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 29055193, - "end": 29124866, - "referenceName": "20", + }, + "updated": "2024-07-24T09:24:38.697439" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr20:29055193-29124866:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 29055193, + "end": 29124866, + "chromosome": "20" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr20:29055194-29124866", "cnCount": 5, "cnValue": 2.57345 - } + }, + "updated": "2024-07-24T09:24:38.697446" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr20:29243819-29296295:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 29243819, - "end": 29296295, - "referenceName": "20", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 29243819, + "end": 29296295, + "chromosome": "20" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr20:29243820-29296295", "cnCount": 3, "cnValue": 1.56534 - } + }, + "updated": "2024-07-24T09:24:38.697456" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr20:29313239-29340136:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 29313239, - "end": 29340136, - "referenceName": "20", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 29313239, + "end": 29340136, + "chromosome": "20" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr20:29313240-29340136", "cnCount": 4, "cnValue": 1.83825 - } + }, + "updated": "2024-07-24T09:24:38.697464" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr20:29375284-29420566:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 29375284, - "end": 29420566, - "referenceName": "20", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 29375284, + "end": 29420566, + "chromosome": "20" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr20:29375285-29420566", "cnCount": 3, "cnValue": 1.39865 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr20:29865742-29893480:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 29865742, - "end": 29893480, - "referenceName": "20", + }, + "updated": "2024-07-24T09:24:38.697473" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr20:29865742-29893480:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 29865742, + "end": 29893480, + "chromosome": "20" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr20:29865743-29893480", "cnCount": 5, "cnValue": 2.26798 - } + }, + "updated": "2024-07-24T09:24:38.697480" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr20:30411441-30462876:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 30411441, - "end": 30462876, - "referenceName": "20", + "variantState": { + "id": "EFO:0030071", + "label": "low-level gain" + }, + "definitions": { + "Location": { + "start": 30411441, + "end": 30462876, + "chromosome": "20" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr20:30411442-30462876", "cnCount": 3, "cnValue": 1.44021 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr20:30812284-30840367:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 30812284, - "end": 30840367, - "referenceName": "20", + }, + "updated": "2024-07-24T09:24:38.697490" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr20:30812284-30840367:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 30812284, + "end": 30840367, + "chromosome": "20" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr20:30812285-30840367", "cnCount": 6, "cnValue": 3.19048 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr20:30921934-30944447:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 30921934, - "end": 30944447, - "referenceName": "20", + }, + "updated": "2024-07-24T09:24:38.697497" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr20:30921934-30944447:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 30921934, + "end": 30944447, + "chromosome": "20" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr20:30921935-30944447", "cnCount": 5, "cnValue": 2.28583 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr20:31053848-31074004:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 31053848, - "end": 31074004, - "referenceName": "20", + }, + "updated": "2024-07-24T09:24:38.697504" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr20:31053848-31074004:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 31053848, + "end": 31074004, + "chromosome": "20" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr20:31053849-31074004", "cnCount": 17, "cnValue": 8.30264 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr20:31184672-31187563:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 31184672, - "end": 31187563, - "referenceName": "20", + }, + "updated": "2024-07-24T09:24:38.697512" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr20:31184672-31187563:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 31184672, + "end": 31187563, + "chromosome": "20" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr20:31184673-31187563", "cnCount": 5, "cnValue": 2.29375 - } + }, + "updated": "2024-07-24T09:24:38.697522" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr20:43643802-43645539:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 43643802, - "end": 43645539, - "referenceName": "20", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 43643802, + "end": 43645539, + "chromosome": "20" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr20:43643803-43645539", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.697529" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr20:63092508-63094701:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 63092508, - "end": 63094701, - "referenceName": "20", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 63092508, + "end": 63094701, + "chromosome": "20" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr20:63092509-63094701", "cnCount": 1, "cnValue": 0.54352 - } + }, + "updated": "2024-07-24T09:24:38.697535" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr20:64092796-64095352:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 64092796, - "end": 64095352, - "referenceName": "20", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 64092796, + "end": 64095352, + "chromosome": "20" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr20:64092797-64095352", "cnCount": 1, "cnValue": 0.255959 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr21:5217636-9014460:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 5217636, - "end": 9014460, - "referenceName": "21", + }, + "updated": "2024-07-24T09:24:38.697561" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr21:5217636-9014460:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 5217636, + "end": 9014460, + "chromosome": "21" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr21:5217637-9014460", "cnCount": 7, "cnValue": 3.54458 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr21:9653494-10272161:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 9653494, - "end": 10272161, - "referenceName": "21", + }, + "updated": "2024-07-24T09:24:38.697569" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr21:9653494-10272161:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 9653494, + "end": 10272161, + "chromosome": "21" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr21:9653495-10272161", "cnCount": 5, "cnValue": 2.32867 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr21:10324835-10467148:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 10324835, - "end": 10467148, - "referenceName": "21", + }, + "updated": "2024-07-24T09:24:38.697577" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr21:10324835-10467148:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 10324835, + "end": 10467148, + "chromosome": "21" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr21:10324836-10467148", "cnCount": 13, "cnValue": 6.60545 - } + }, + "updated": "2024-07-24T09:24:38.697587" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr21:10510818-12990763:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 10510818, - "end": 12990763, - "referenceName": "21", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 10510818, + "end": 12990763, + "chromosome": "21" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr21:10510819-12990763", "cnCount": 4, "cnValue": 1.90573 - } + }, + "updated": "2024-07-24T09:24:38.697594" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr21:17239070-17241446:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 17239070, - "end": 17241446, - "referenceName": "21", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 17239070, + "end": 17241446, + "chromosome": "21" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr21:17239071-17241446", "cnCount": 1, "cnValue": 0.170587 - } + }, + "updated": "2024-07-24T09:24:38.697601" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr21:17953498-17957173:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 17953498, - "end": 17957173, - "referenceName": "21", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 17953498, + "end": 17957173, + "chromosome": "21" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr21:17953499-17957173", "cnCount": 1, "cnValue": 0.452381 - } + }, + "updated": "2024-07-24T09:24:38.697611" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr21:44199493-44200631:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 44199493, - "end": 44200631, - "referenceName": "21", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 44199493, + "end": 44200631, + "chromosome": "21" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr21:44199494-44200631", "cnCount": 0, "cnValue": 1.00369e-09 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chr22:10711935-11067599:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 10711935, - "end": 11067599, - "referenceName": "22", + }, + "updated": "2024-07-24T09:24:38.697618" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chr22:10711935-11067599:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 10711935, + "end": 11067599, + "chromosome": "22" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr22:10711936-11067599", "cnCount": 10, "cnValue": 4.84262 - } + }, + "updated": "2024-07-24T09:24:38.697626" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr22:11307966-15938517:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 11307966, - "end": 15938517, - "referenceName": "22", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 11307966, + "end": 15938517, + "chromosome": "22" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr22:11307967-15938517", "cnCount": 4, "cnValue": 1.92364 - } + }, + "updated": "2024-07-24T09:24:38.697638" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr22:18731265-18732759:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 18731265, - "end": 18732759, - "referenceName": "22", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 18731265, + "end": 18732759, + "chromosome": "22" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr22:18731266-18732759", "cnCount": 0, "cnValue": 0.0331533 - } + }, + "updated": "2024-07-24T09:24:38.697646" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr22:19583264-19585791:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 19583264, - "end": 19585791, - "referenceName": "22", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 19583264, + "end": 19585791, + "chromosome": "22" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr22:19583265-19585791", "cnCount": 1, "cnValue": 0.314613 - } + }, + "updated": "2024-07-24T09:24:38.697657" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr22:23234010-23236200:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 23234010, - "end": 23236200, - "referenceName": "22", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 23234010, + "end": 23236200, + "chromosome": "22" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr22:23234011-23236200", "cnCount": 1, "cnValue": 0.449645 - } + }, + "updated": "2024-07-24T09:24:38.697664" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr22:23428465-23432224:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 23428465, - "end": 23432224, - "referenceName": "22", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 23428465, + "end": 23432224, + "chromosome": "22" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chr22:23428466-23432224", "cnCount": 4, "cnValue": 1.82855 - } + }, + "updated": "2024-07-24T09:24:38.697671" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr22:23683235-23685235:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 23683235, - "end": 23685235, - "referenceName": "22", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 23683235, + "end": 23685235, + "chromosome": "22" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr22:23683236-23685235", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.697678" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr22:23932366-23946282:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 23932366, - "end": 23946282, - "referenceName": "22", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 23932366, + "end": 23946282, + "chromosome": "22" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr22:23932367-23946282", "cnCount": 1, "cnValue": 0.421974 - } + }, + "updated": "2024-07-24T09:24:38.697688" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr22:29236423-29239546:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 29236423, - "end": 29239546, - "referenceName": "22", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 29236423, + "end": 29239546, + "chromosome": "22" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr22:29236424-29239546", "cnCount": 1, "cnValue": 0.175864 - } + }, + "updated": "2024-07-24T09:24:38.697694" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr22:31380910-31384125:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 31380910, - "end": 31384125, - "referenceName": "22", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 31380910, + "end": 31384125, + "chromosome": "22" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr22:31380911-31384125", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.697701" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr22:36746792-36751150:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 36746792, - "end": 36751150, - "referenceName": "22", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 36746792, + "end": 36751150, + "chromosome": "22" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr22:36746793-36751150", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.697708" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chr22:42320387-42323710:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 42320387, - "end": 42323710, - "referenceName": "22", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 42320387, + "end": 42323710, + "chromosome": "22" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chr22:42320388-42323710", "cnCount": 1, "cnValue": 0.510072 - } + }, + "updated": "2024-07-24T09:24:38.697717" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrX:327784-329399:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 327784, - "end": 329399, - "referenceName": "X", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 327784, + "end": 329399, + "chromosome": "X" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chrX:327785-329399", "cnCount": 0, "cnValue": 0.150949 - } + }, + "updated": "2024-07-24T09:24:38.697724" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrX:975913-978337:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 975913, - "end": 978337, - "referenceName": "X", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 975913, + "end": 978337, + "chromosome": "X" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chrX:975914-978337", "cnCount": 1, "cnValue": 0.342165 - } + }, + "updated": "2024-07-24T09:24:38.697734" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrX:1166274-1182671:EFO:0030068", - "variantType": "DEL", - "variantId": "EFO:0030068", - "start": 1166274, - "end": 1182671, - "referenceName": "X", + "variantState": { + "id": "EFO:0030068", + "label": "low-level loss" + }, + "definitions": { + "Location": { + "start": 1166274, + "end": 1182671, + "chromosome": "X" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chrX:1166275-1182671", "cnCount": 1, "cnValue": 0.351645 - } + }, + "updated": "2024-07-24T09:24:38.697743" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrX:5137101-5139130:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 5137101, - "end": 5139130, - "referenceName": "X", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 5137101, + "end": 5139130, + "chromosome": "X" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chrX:5137102-5139130", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.697750" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrX:34421912-34424508:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 34421912, - "end": 34424508, - "referenceName": "X", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 34421912, + "end": 34424508, + "chromosome": "X" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chrX:34421913-34424508", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.697757" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrX:57696712-57697807:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 57696712, - "end": 57697807, - "referenceName": "X", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 57696712, + "end": 57697807, + "chromosome": "X" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chrX:57696713-57697807", "cnCount": 0, "cnValue": 0.022804 - } + }, + "updated": "2024-07-24T09:24:38.697764" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrX:58488950-58498494:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 58488950, - "end": 58498494, - "referenceName": "X", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 58488950, + "end": 58498494, + "chromosome": "X" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chrX:58488951-58498494", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.697771" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrX:62761526-62771085:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 62761526, - "end": 62771085, - "referenceName": "X", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 62761526, + "end": 62771085, + "chromosome": "X" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chrX:62761527-62771085", "cnCount": 2, "cnValue": 1.8673 - } + }, + "updated": "2024-07-24T09:24:38.697783" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrX:75996647-76002528:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 75996647, - "end": 76002528, - "referenceName": "X", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 75996647, + "end": 76002528, + "chromosome": "X" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chrX:75996648-76002528", "cnCount": 2, "cnValue": 1.90476 - } + }, + "updated": "2024-07-24T09:24:38.697793" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrX:77865333-77867847:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 77865333, - "end": 77867847, - "referenceName": "X", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 77865333, + "end": 77867847, + "chromosome": "X" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chrX:77865334-77867847", "cnCount": 0, "cnValue": 9.70144e-06 - } + }, + "updated": "2024-07-24T09:24:38.697800" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrX:96808172-96809172:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 96808172, - "end": 96809172, - "referenceName": "X", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 96808172, + "end": 96809172, + "chromosome": "X" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chrX:96808173-96809172", "cnCount": 0, "cnValue": 0.0487332 - } + }, + "updated": "2024-07-24T09:24:38.697806" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrX:104003381-104050640:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 104003381, - "end": 104050640, - "referenceName": "X", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 104003381, + "end": 104050640, + "chromosome": "X" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chrX:104003382-104050640", "cnCount": 2, "cnValue": 2.04762 - } + }, + "updated": "2024-07-24T09:24:38.697814" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrX:115308311-115309311:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 115308311, - "end": 115309311, - "referenceName": "X", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 115308311, + "end": 115309311, + "chromosome": "X" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chrX:115308312-115309311", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.697824" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrX:115735984-115737909:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 115735984, - "end": 115737909, - "referenceName": "X", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 115735984, + "end": 115737909, + "chromosome": "X" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chrX:115735985-115737909", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.697836" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrX:119740347-119742168:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 119740347, - "end": 119742168, - "referenceName": "X", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 119740347, + "end": 119742168, + "chromosome": "X" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chrX:119740348-119742168", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.697845" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrX:129366304-129368317:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 129366304, - "end": 129368317, - "referenceName": "X", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 129366304, + "end": 129368317, + "chromosome": "X" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chrX:129366305-129368317", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.697852" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrX:141382259-141384533:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 141382259, - "end": 141384533, - "referenceName": "X", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 141382259, + "end": 141384533, + "chromosome": "X" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chrX:141382260-141384533", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.697859" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrX:143652805-143659126:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 143652805, - "end": 143659126, - "referenceName": "X", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 143652805, + "end": 143659126, + "chromosome": "X" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chrX:143652806-143659126", "cnCount": 0, "cnValue": 0.144084 - } + }, + "updated": "2024-07-24T09:24:38.697865" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrX:145340613-145342783:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 145340613, - "end": 145342783, - "referenceName": "X", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 145340613, + "end": 145342783, + "chromosome": "X" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chrX:145340614-145342783", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.697872" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrX:150759112-150760112:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 150759112, - "end": 150760112, - "referenceName": "X", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 150759112, + "end": 150760112, + "chromosome": "X" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chrX:150759113-150760112", "cnCount": 0, "cnValue": 0.0295694 - } + }, + "updated": "2024-07-24T09:24:38.697881" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrX:151124830-151127394:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 151124830, - "end": 151127394, - "referenceName": "X", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 151124830, + "end": 151127394, + "chromosome": "X" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chrX:151124831-151127394", "cnCount": 0, "cnValue": 0.224926 - } + }, + "updated": "2024-07-24T09:24:38.697888" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrX:155688504-155692183:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 155688504, - "end": 155692183, - "referenceName": "X", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 155688504, + "end": 155692183, + "chromosome": "X" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chrX:155688505-155692183", "cnCount": 0, "cnValue": 1.00369e-09 - } + }, + "updated": "2024-07-24T09:24:38.697895" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrY:3844269-3854396:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 3844269, - "end": 3854396, - "referenceName": "Y", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 3844269, + "end": 3854396, + "chromosome": "Y" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chrY:3844270-3854396", "cnCount": 2, "cnValue": 1.85714 - } + }, + "updated": "2024-07-24T09:24:38.697902" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrY:10659024-10693717:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 10659024, - "end": 10693717, - "referenceName": "Y", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 10659024, + "end": 10693717, + "chromosome": "Y" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chrY:10659025-10693717", "cnCount": 2, "cnValue": 1.96766 - } + }, + "updated": "2024-07-24T09:24:38.697909" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrY:11108561-11117868:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 11108561, - "end": 11117868, - "referenceName": "Y", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 11108561, + "end": 11117868, + "chromosome": "Y" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chrY:11108562-11117868", "cnCount": 4, "cnValue": 3.54352 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chrY:11289947-11296309:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 11289947, - "end": 11296309, - "referenceName": "Y", + }, + "updated": "2024-07-24T09:24:38.697917" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chrY:11289947-11296309:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 11289947, + "end": 11296309, + "chromosome": "Y" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chrY:11289948-11296309", "cnCount": 26, "cnValue": 26.0609 - } + }, + "updated": "2024-07-24T09:24:38.697933" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrY:11296309-11330116:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 11296309, - "end": 11330116, - "referenceName": "Y", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 11296309, + "end": 11330116, + "chromosome": "Y" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chrY:11296310-11330116", "cnCount": 2, "cnValue": 1.84192 - } - }, - { - "biosampleId": "HG00096", - "assemblyId": "GRCh38", - "variantInternalId": "chrY:11530585-11539539:EFO:0030071", - "variantType": "DUP", - "variantId": "EFO:0030071", - "start": 11530585, - "end": 11539539, - "referenceName": "Y", + }, + "updated": "2024-07-24T09:24:38.697940" + }, + { + "biosampleId": "HG00096", + "assemblyId": "GRCh38", + "variantInternalId": "chrY:11530585-11539539:EFO:0030072", + "variantState": { + "id": "EFO:0030072", + "label": "high-level gain" + }, + "definitions": { + "Location": { + "start": 11530585, + "end": 11539539, + "chromosome": "Y" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chrY:11530586-11539539", "cnCount": 17, "cnValue": 16.6986 - } + }, + "updated": "2024-07-24T09:24:38.697947" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrY:11744914-11748800:EFO:0030070", - "variantType": "DUP", - "variantId": "EFO:0030070", - "start": 11744914, - "end": 11748800, - "referenceName": "Y", + "variantState": { + "id": "EFO:0030070", + "label": "copy number gain" + }, + "definitions": { + "Location": { + "start": 11744914, + "end": 11748800, + "chromosome": "Y" + } + }, "info": { "legacyId": "DRAGEN:GAIN:chrY:11744915-11748800", "cnCount": 2, "cnValue": 2.03175 - } + }, + "updated": "2024-07-24T09:24:38.697954" }, { "biosampleId": "HG00096", "assemblyId": "GRCh38", "variantInternalId": "chrY:12512335-12514483:EFO:0030069", - "variantType": "DEL", - "variantId": "EFO:0030069", - "start": 12512335, - "end": 12514483, - "referenceName": "Y", + "variantState": { + "id": "EFO:0030069", + "label": "complete genomic loss" + }, + "definitions": { + "Location": { + "start": 12512335, + "end": 12514483, + "chromosome": "Y" + } + }, "info": { "legacyId": "DRAGEN:LOSS:chrY:12512336-12514483", "cnCount": 0, "cnValue": 0.284822 - } + }, + "updated": "2024-07-24T09:24:38.697961" } ] \ No newline at end of file