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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
    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
    esv2421585copy number variation34estd195human NCBI36 chr15: 21,172,300-21,222,425 , GRCh37.p13 chr15: 23,620,859-23,670,984 , GRCh38.p12 chr15: 23,375,712-23,425,837 LOC105370728
    esv2422044copy number variation756estd195human NCBI36 chr2: 97,507,179-97,531,181 , GRCh37.p13 chr2: 98,146,258-98,164,749 , GRCh38.p12 chr2: 97,524,284-97,548,286 ANKRD36B
    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
    esv2422015copy number variation12estd195human NCBI36 chr2: 194,289,598-194,306,617 , GRCh37.p13 chr2: 194,581,353-194,598,372 , GRCh38.p12 chr2: 193,716,629-193,733,648 SEC61GP1
    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
    esv2421442copy number variation49estd195human NCBI36 chr4: 98,391,437-98,404,155 , GRCh37.p13 chr4: 98,172,414-98,185,132 , GRCh38.p12 chr4: 97,251,263-97,263,981 STPG2
    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
    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
    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
    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
    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
    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
    esv2422082copy number variation125estd195human NCBI36 chr12: 739,370-744,290 , GRCh37.p13 chr12: 869,109-874,029 , GRCh38.p12 chr12: 759,943-764,863 WNK1
    esv2421523copy number variation929estd195human NCBI36 chr6: 165,647,807-165,651,918 , GRCh37.p13 chr6: 165,727,817-165,731,928 , GRCh38.p12 chr6: 165,314,328-165,318,439 LOC105378113
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