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Items: 1 to 20 of 125

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv2421409complex substitution85estd195human NCBI36 chr16: 16,538,314-16,726,778 , GRCh37.p13 chr16: 16,630,813-16,819,277 , GRCh38.p12 chr16: 16,536,956-16,725,420 , GRCh38.p12 chr16|NT_187607.1: 2,198,016-2,386,344 LOC100133127
    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
    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
    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
    esv2422105copy number variation104estd195human NCBI36 chr1: 22,193,102-22,203,126 , GRCh37.p13 chr1: 22,320,515-22,330,539 , GRCh38.p12 chr1: 21,994,022-22,004,046 CELA3A
    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
    esv2422096copy number variation165estd195human NCBI36 chr1: 72,528,637-72,535,958 , GRCh37.p13 chr1: 72,756,049-72,763,370 , GRCh38.p12 chr1: 72,290,366-72,297,687 , GRCh38.p12 chr1|NW_018654707.1: 2,633-9,954 LOC105378797
    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
    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
    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
    esv2422088copy number variation16estd195human NCBI36 chr7: 110,824,661-110,829,591 , GRCh37.p13 chr7: 111,037,425-111,042,355 , GRCh38.p12 chr7: 111,397,369-111,402,299 IMMP2L
    esv2421563copy number variation482estd195human NCBI36 chr3: 133,190,847-133,195,707 , GRCh37.p13 chr3: 131,708,157-131,713,017 , GRCh38.p12 chr3: 131,989,313-131,994,173 CPNE4
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