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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv2421976copy number variation508estd195human NCBI36 chr9: 44,667,855-44,777,523 , GRCh37.p13 chr9: 44,727,859-44,837,527 , GRCh38.p12 chr9: 61,520,021-61,629,689 LOC105379437
    esv2421639copy number variation303estd195human NCBI36 chr11: 54,725,242-54,793,048 , GRCh37.p13 chr11: 54,968,666-55,036,472 , GRCh38.p12 chr11: 55,201,190-55,268,996 TRIM48
    esv2422035copy number variation565estd195human NCBI36 chr7: 66,259,399-66,314,065 , GRCh37.p13 chr7: 66,621,964-66,676,630 , GRCh38.p12 chr7: 67,156,977-67,211,643 TYW1
    esv2421331copy number variation359estd195human NCBI36 chr4: 34,462,895-34,501,120 , GRCh37.p13 chr4|NW_003315915.1: 277,207-315,432 , GRCh37.p13 chr4: 34,786,500-34,824,725 , GRCh38.p12 chr4: 34,784,878-34,823,103 , GRCh38.p12 chr4|NW_003315915.1: 277,207-315,432 LOC105378262
    esv2422036copy number variation70estd195human NCBI36 chr17: 6,047,210-6,073,498 , GRCh37.p13 chr17: 6,106,486-6,132,774 , GRCh38.p12 chr17: 6,203,166-6,229,454 RNU6-1264P
    esv2422018copy number variation269estd195human NCBI36 chr11: 7,769,616-7,788,834 , GRCh37.p13 chr11: 7,813,040-7,832,258 , GRCh38.p12 chr11: 7,791,493-7,810,711 , GRCh38.p12 chr11|NT_187583.1: 12,361-31,579 , GRCh38.p12 chr11|NW_011332695.1: 12,361-31,581 OR5P2
    esv2421531copy number variation740estd195human NCBI36 chr10: 81,475,459-81,489,917 , GRCh37.p13 chr10: 81,485,267-81,499,734 , GRCh38.p12 chr10: 79,725,511-79,739,978 NUTM2B-AS1
    esv2422012copy number variation561estd195human NCBI36 chr13: 71,375,556-71,387,378 , GRCh37.p13 chr13: 72,477,555-72,489,377 , GRCh38.p12 chr13: 71,903,417-71,915,239 RPS10P21
    esv2421817copy number variation26estd195human NCBI36 chr3: 41,755,151-41,763,496 , GRCh37.p13 chr3: 41,780,147-41,788,492 , GRCh38.p12 chr3: 41,738,655-41,747,000 ULK4
    esv2422019copy number variation523estd195human NCBI36 chr8: 144,772,135-144,780,417 , GRCh37.p13 chr8: 144,700,992-144,709,274 , GRCh38.p12 chr8: 143,618,822-143,627,104 LOC105375798
    esv2421562complex substitution618estd195human NCBI36 chr19: 56,832,974-56,840,616 , GRCh37.p13 chr19: 52,141,162-52,148,804 , GRCh38.p12 chr19: 51,637,909-51,645,551 SIGLEC14
    esv2421396complex substitution618estd195human NCBI36 chr19: 56,832,974-56,840,616 , GRCh37.p13 chr19: 52,141,162-52,148,804 , GRCh38.p12 chr19: 51,637,909-51,645,551 SIGLEC14
    esv2422040copy number variation1014estd195human NCBI36 chr3: 194,358,067-194,365,597 , GRCh37.p13 chr3: 192,875,373-192,882,903 , GRCh38.p12 chr3: 193,157,584-193,165,114 VEZF1P1
    esv2421670copy number variation191estd195human NCBI36 chr11: 5,832,443-5,839,893 , GRCh37.p13 chr11: 5,875,867-5,883,317 , GRCh38.p12 chr11: 5,854,637-5,862,087 OR52E8
    esv2421570copy number variation79estd195human NCBI36 chr7: 115,722,247-115,728,902 , GRCh37.p13 chr7: 115,935,011-115,941,666 , GRCh38.p12 chr7: 116,294,957-116,301,612 LOC105375463
    esv2422091copy number variation278estd195human NCBI36 chr1: 34,875,241-34,880,863 , GRCh37.p13 chr1: 35,102,654-35,108,276 , GRCh38.p12 chr1: 34,637,053-34,642,675 LOC105378641
    esv2421911copy number variation770estd195human NCBI36 chr4: 173,224,311-173,229,756 , GRCh37.p13 chr4: 172,987,736-172,993,181 , GRCh38.p12 chr4: 172,066,585-172,072,030 GALNTL6
    esv2421868copy number variation618estd195human NCBI36 chr12: 44,190,705-44,195,804 , GRCh37.p13 chr12: 45,904,438-45,909,537 , GRCh38.p12 chr12: 45,510,655-45,515,754 LOC105369743
    esv2422087copy number variation1023estd195human NCBI36 chr5: 177,160,157-177,165,211 , GRCh37.p13 chr5: 177,227,551-177,232,605 , GRCh38.p12 chr5: 177,800,550-177,805,604 LOC105377752
    esv2421742copy number variation48estd195human NCBI36 chr14: 78,230,699-78,235,361 , GRCh37.p13 chr14: 79,160,946-79,165,608 , GRCh38.p12 chr14: 78,694,603-78,699,265 NRXN3
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