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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
    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
    esv2421330copy number variation43estd195human NCBI36 chr14: 43,570,867-43,600,472 , GRCh37.p13 chr14: 44,501,117-44,530,722 , GRCh38.p12 chr14: 44,031,914-44,061,519 LINC02307
    esv2421900copy number variation303estd195human NCBI36 chr16: 54,351,338-54,379,945 , GRCh37.p13 chr16: 55,793,837-55,822,444 , GRCh38.p12 chr16: 55,759,925-55,788,532 CES1P1
    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
    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
    esv2421907copy number variation49estd195human NCBI36 chr1: 211,068,711-211,077,059 , GRCh37.p13 chr1: 213,002,088-213,010,436 , GRCh38.p12 chr1: 212,828,746-212,837,094 SPATA45
    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
    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
    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
    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
    esv2421572copy number variation536estd195human NCBI36 chr15: 74,678,296-74,682,830 , GRCh37.p13 chr15: 76,891,241-76,895,775 , GRCh38.p12 chr15: 76,598,900-76,603,434 SCAPER
    esv2421564copy number variation219estd195human NCBI36 chr6: 66,456,203-66,460,573 , GRCh37.p13 chr6: 66,399,482-66,403,852 , GRCh38.p12 chr6: 65,689,589-65,693,959 EYS
    esv2421995copy number variation235estd195human NCBI36 chr17: 15,483,424-15,487,515 , GRCh37.p13 chr17: 15,542,699-15,546,790 , GRCh38.p12 chr17: 15,639,385-15,643,476 TRIM16
    esv2421780copy number variation476estd195human NCBI36 chr1: 108,535,014-108,539,019 , GRCh37.p13 chr1: 108,733,491-108,737,496 , GRCh38.p12 chr1: 108,190,869-108,194,874 , GRCh38.p12 chr1|NW_017852928.1: 203,039-207,044 SLC25A24
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