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Items: 1 to 20 of 131

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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
    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
    esv2421332copy number variation47estd195human NCBI36 chr12: 130,363,561-130,398,112 , GRCh37.p13 chr12: 131,797,608-131,832,159 , GRCh38.p12 chr12: 131,313,063-131,347,614 LINC02370
    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
    esv2421449copy number variation100estd195human NCBI36 chr3: 53,003,023-53,014,529 , GRCh37.p13 chr3: 53,027,983-53,039,489 , GRCh38.p12 chr3: 52,993,967-53,005,473 SFMBT1
    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
    esv2421653copy number variation48estd195human NCBI36 chr15: 45,994,758-46,001,995 , GRCh37.p13 chr15: 48,207,466-48,214,703 , GRCh38.p12 chr15: 47,915,269-47,922,506 LOC105370805
    esv2421944copy number variation21estd195human NCBI36 chr11: 99,152,896-99,160,002 , GRCh37.p13 chr11: 99,647,686-99,654,792 , GRCh38.p12 chr11: 99,776,955-99,784,061 CNTN5
    esv2421832copy number variation28estd195human NCBI36 chr7: 112,300,902-112,307,732 , GRCh37.p13 chr7: 112,513,666-112,520,496 , GRCh38.p12 chr7: 112,873,611-112,880,441 BMT2
    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
    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
    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
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