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Items: 1 to 20 of 1211

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv2676068copy number variation152estd199human GRCh37 chr6: 32,454,245-32,511,792 , GRCh38.p12 chr6: 32,486,468-32,544,015 HLA-DRB5
    esv2676879copy number variation198estd199human GRCh37 chr4: 34,779,980-34,829,038 , GRCh38.p12 chr4: 34,778,358-34,827,416 , GRCh38.p12 chr4|NW_003315915.1: 270,687-319,745 LOC105378262
    esv2664200copy number variation92estd199human GRCh37 chr4: 75,282,645-75,323,192 , GRCh38.p12 chr4: 74,416,928-74,457,475 AREG
    esv2660522copy number variation236estd199human GRCh37 chr1: 207,700,012-207,737,123 , GRCh38.p12 chr1: 207,526,667-207,563,778 CR1
    esv2673583copy number variation519estd199human GRCh37 chr20: 1,560,991-1,594,041 , GRCh38.p12 chr20: 1,580,345-1,613,395 SIRPB1
    esv2666578copy number variation167estd199human GRCh37 chr17: 77,462,245-77,494,392 , GRCh38.p12 chr17: 79,466,163-79,498,310 RBFOX3
    esv2661219copy number variation458estd199human GRCh37 chr8: 48,180,445-48,214,692 , GRCh38.p12 chr8: 47,276,396-47,302,103 SPIDR
    esv2669475copy number variation624estd199human GRCh37 chr1: 147,976,045-147,996,192 , GRCh38.p12 chr1: 120,848,940-120,869,086 RNVU1-19
    esv2675358copy number variation1estd199human GRCh37 chr1: 112,341,897-112,359,582 , GRCh38.p12 chr1: 111,799,275-111,816,960 KCND3
    esv2670760copy number variation36estd199human GRCh37 chr7: 100,326,395-100,343,242 , GRCh38.p12 chr7: 100,728,772-100,745,619 ZAN
    esv2662901copy number variation324estd199human GRCh37 chr9: 41,969,445-41,984,392 , GRCh38.p12 chr9: 39,824,427-39,839,374 FGF7P3
    esv2662537copy number variation71estd199human GRCh37 chr3: 75,567,345-75,581,692 , GRCh38.p12 chr3: 75,518,194-75,532,541 SNRPCP10
    esv2661760copy number variation42estd199human GRCh37 chr7: 62,965,045-62,979,392 , GRCh38.p12 chr7: 63,504,667-63,519,014 PHKG1P2
    esv2668407copy number variation98estd199human GRCh37 chr11: 55,445,645-55,459,892 , GRCh38.p12 chr11: 55,678,169-55,692,416 OR4P1P
    esv2663062copy number variation52estd199human GRCh37 chr7: 155,594,945-155,608,992 , GRCh38.p12 chr7: 155,802,251-155,816,298 SHH
    esv2675982copy number variation92estd199human GRCh37 chr8: 21,624,845-21,638,692 , GRCh38.p12 chr8: 21,767,333-21,781,180 GFRA2
    esv2657895copy number variation46estd199human GRCh37 chr15: 76,883,645-76,897,492 , GRCh38.p12 chr15: 76,591,304-76,605,151 SCAPER
    esv2666505copy number variation53estd199human GRCh37 chr3: 195,457,318-195,471,074 , GRCh38.p12 chr3|NT_187678.1: 51,829-65,597 , GRCh38.p12 chr3|NT_187688.1: 50,529-64,252 , GRCh38.p12 chr3|NT_187689.1: 100,944-114,700 , GRCh38.p12 chr3|NT_187690.1: 50,528-64,259 , GRCh38.p12 chr3|NT_187691.1: 50,635-64,429 , GRCh38.p12 chr3|NT_187532.1: 100,944-114,700 , GRCh38.p12 chr3|NT_187649.1: 50,533-64,252 , GRCh38.p12 chr3: 195,730,447-195,744,203 MUC20
    esv2663811copy number variation483estd199human GRCh37 chr7: 133,785,000-133,798,329 , GRCh38.p12 chr7: 134,100,247-134,113,576
    esv2669307copy number variation18estd199human GRCh37 chr6: 80,557,132-80,570,423 , GRCh38.p12 chr6: 79,847,415-79,860,706 LOC100422671
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