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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    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
    esv2421693copy number variation413estd195human NCBI36 chr1: 167,493,526-167,508,390 , GRCh37.p13 chr1: 169,226,902-169,241,766 , GRCh38.p12 chr1: 169,257,664-169,272,528 NME7
    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
    esv2422017copy number variation96estd195human NCBI36 chr17: 14,984,651-14,998,961 , GRCh37.p13 chr17: 15,043,926-15,058,236 , GRCh38.p12 chr17: 15,140,609-15,154,919 LOC107984976
    esv2422149copy number variation153estd195human NCBI36 chr10: 124,331,524-124,341,587 , GRCh37.p13 chr10: 124,341,534-124,351,597 , GRCh38.p12 chr10: 122,582,018-122,592,081 DMBT1
    esv2421339copy number variation124estd195human NCBI36 chr12: 126,141,646-126,151,541 , GRCh37.p13 chr12: 127,575,693-127,585,588 , GRCh38.p12 chr12: 127,091,148-127,101,043 , GRCh38.p12 chr12|NW_019805499.1: 37,672-47,567 LOC107984449
    esv2422027copy number variation200estd195human NCBI36 chr4: 107,156,053-107,165,884 , GRCh37.p13 chr4: 106,936,604-106,946,435 , GRCh38.p12 chr4: 106,015,447-106,025,278 LOC101929577
    esv2422041copy number variation263estd195human NCBI36 chr21: 22,576,805-22,586,529 , GRCh37.p13 chr21|NW_003315968.1: 186,844-196,568 , GRCh37.p13 chr21: 23,654,934-23,664,658 , GRCh38.p12 chr21: 22,282,614-22,292,338 , GRCh38.p12 chr21|NW_003315968.2: 186,843-196,567 LOC107985508
    esv2421592copy number variation41estd195human NCBI36 chr18: 65,358,832-65,368,251 , GRCh37.p13 chr18: 67,207,852-67,217,271 , GRCh38.p12 chr18: 69,540,616-69,550,035 DOK6
    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
    esv2421747copy number variation118estd195human NCBI36 chr2: 49,387,002-49,394,694 , GRCh37.p13 chr2: 49,533,498-49,541,190 , GRCh38.p12 chr2: 49,306,359-49,314,051 LOC105374595
    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
    esv2421419copy number variation12estd195human NCBI36 chr1: 229,602,207-229,609,279 , GRCh37.p13 chr1: 231,535,584-231,542,656 , GRCh38.p12 chr1: 231,399,838-231,406,910 EGLN1
    esv2421549copy number variation235estd195human NCBI36 chr6: 19,150,160-19,156,771 , GRCh37.p13 chr6: 19,042,181-19,048,792 , GRCh38.p12 chr6: 19,041,950-19,048,561 LOC105374958
    esv2421763copy number variation544estd195human NCBI36 chr3: 191,220,845-191,227,315 , GRCh37.p13 chr3: 189,738,151-189,744,621 , GRCh38.p12 chr3: 190,020,362-190,026,832 P3H2
    esv2421800copy number variation199estd195human NCBI36 chr7: 247,723-253,709 , GRCh37.p13 chr7: 152,640-158,626 , GRCh38.p12 chr7: 152,640-158,626 , GRCh38.p12 chr7|NT_187558.1: 108,445-114,432 , GRCh38.p12 chr7|NT_187653.1: 144,961-150,947 LINC03014
    esv2422167copy number variation370estd195human NCBI36 chr12: 69,158,942-69,164,294 , GRCh37.p13 chr12: 70,872,675-70,878,027 , GRCh38.p12 chr12: 70,478,895-70,484,247
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