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Items: 1 to 20 of 141

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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
    esv2422170copy number variation291estd195human NCBI36 chr6: 79,025,784-79,091,904 , GRCh37.p13 chr6: 78,969,065-79,035,185 , GRCh38.p12 chr6: 78,259,348-78,325,468 LOC105377865
    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
    esv2421874copy number variation16estd195human NCBI36 chr3: 166,524,242-166,564,633 , GRCh37.p13 chr3: 165,041,548-165,081,939 , GRCh38.p12 chr3: 165,323,760-165,364,151 LINC01322
    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
    esv2421709copy number variation526estd195human NCBI36 chr7: 133,435,717-133,449,737 , GRCh37.p13 chr7: 133,785,177-133,799,197 , GRCh38.p12 chr7: 134,100,424-134,114,444
    esv2422030copy number variation614estd195human NCBI36 chr2: 179,775,437-179,787,389 , GRCh37.p13 chr2: 180,067,192-180,079,144 , GRCh38.p12 chr2: 179,202,465-179,214,417 SESTD1
    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
    esv2421505copy number variation23estd195human NCBI36 chr12: 126,158,640-126,170,328 , GRCh37.p13 chr12: 127,592,687-127,604,375 , GRCh38.p12 chr12: 127,108,142-127,119,830 , GRCh38.p12 chr12|NW_019805499.1: 54,666-66,354 LOC107984449
    esv2421413copy number variation27estd195human NCBI36 chr4: 15,369,169-15,377,565 , GRCh37.p13 chr4: 15,760,071-15,768,467 , GRCh38.p12 chr4: 15,758,448-15,766,844 BST1
    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
    esv2421755copy number variation61estd195human NCBI36 chr11: 104,429,072-104,436,443 , GRCh37.p13 chr11: 104,923,862-104,931,233 , GRCh38.p12 chr11: 105,053,135-105,060,506 LOC107984381
    esv2421777copy number variation80estd195human NCBI36 chr8: 3,984,471-3,991,699 , GRCh37.p13 chr8: 3,997,063-4,004,291 , GRCh38.p12 chr8: 4,139,541-4,146,769 CSMD1
    esv2422058copy number variation19estd195human NCBI36 chr22: 39,203,522-39,210,638 , GRCh37.p13 chr22: 40,873,576-40,880,692 , GRCh38.p12 chr22: 40,477,572-40,484,688 MRTFA
    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
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