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Items: 20

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv2761888copy number variation2estd203human NCBI36 chr15: 47,870,479-47,912,400 , GRCh37.p13 chr15: 50,083,187-50,125,108 , GRCh38.p12 chr15: 49,790,990-49,832,911 RLIMP3
    esv2760688copy number variation119estd203human NCBI36 chr12: 726,126-746,507 , GRCh37.p13 chr12: 855,865-876,246 , GRCh38.p12 chr12: 746,699-767,080 WNK1
    esv2764074copy number variation121estd203human NCBI36 chr8: 39,344,897-39,523,161 , GRCh37.p13 chr8: 39,225,740-39,404,004 , GRCh38.p12 chr8: 39,368,221-39,546,485 ADAM3A, ADAM5
    esv2762187copy number variation93estd203human NCBI36 chr1: 105,814,277-105,938,436 , GRCh37.p13 chr1: 106,012,754-106,136,913 , GRCh38.p12 chr1: 105,470,132-105,594,291 LINC01676, LOC105378881
    esv2760755copy number variation49estd203human NCBI36 chr12: 27,532,181-27,548,428 , GRCh37.p13 chr12: 27,640,914-27,657,161 , GRCh38.p12 chr12: 27,487,981-27,504,228 SMCO2, RARS1P1
    esv2763065copy number variation70estd203human GRCh38.p12 chr19: 20,402,992-20,543,816 , GRCh37.p13 chr19: 20,513,801-20,726,622 , NCBI36 chr19: 20,374,803-20,518,462 , GRCh37.p13 chr19|NW_003571053.2: 329,860-461,069 ZNF826P, ZNF737, 4 more genes
    esv2760966copy number variation15estd203human NCBI36 chr12: 130,297,897-130,391,708 , GRCh38.p12 chr12: 131,247,399-131,341,210 , GRCh37.p13 chr12: 131,731,944-131,825,755 LOC100128002, RPS6P20, 5 more genes
    esv2764098copy number variation130estd203human NCBI36 chr8: 6,947,243-8,638,121 , GRCh37.p13 chr8: 6,959,833-8,600,711 , GRCh38.p12 chr8: 7,102,311-8,743,201 HSPD1P3, DEFB103B, 89 more genes
    esv2762433copy number variation380estd203human NCBI36 chr17: 40,929,917-42,143,377 , GRCh37.p13 chr17: 43,574,134-44,788,194 , GRCh38.p12 chr17: 45,496,768-46,710,828 ARL17A, SPPL2C, 34 more genes
    esv2763121copy number variation153estd203human NCBI36 chr19: 47,907,168-48,538,234 , GRCh37.p13 chr19: 43,215,328-43,846,394 , GRCh38.p12 chr19: 42,711,176-43,342,242 CEACAMP10, PSG2, 20 more genes
    esv2763992copy number variation124estd203human NCBI36 chr6: 67,058,797-67,107,923 , GRCh37.p13 chr6: 67,002,076-67,051,202 , GRCh38.p12 chr6: 66,292,183-66,341,309 0
    esv2764082copy number variation75estd203human NCBI36 chr8: 25,002,885-25,040,250 , GRCh37.p13 chr8: 24,946,968-24,984,333 , GRCh38.p12 chr8: 25,089,453-25,126,818 0
    esv2763842copy number variation25estd203human NCBI36 chr4: 108,285,200-108,298,124 , GRCh37.p13 chr4: 108,065,751-108,078,675 , GRCh38.p12 chr4: 107,144,594-107,157,518 0
    esv2763850copy number variation7estd203human NCBI36 chr4: 88,887,969-88,891,764 , GRCh37.p13 chr4: 88,668,945-88,672,740 , GRCh38.p12 chr4: 87,747,793-87,751,588 0
    esv2763411copy number variation151estd203human NCBI36 chr2: 146,580,874-146,583,404 , GRCh37.p13 chr2: 146,864,404-146,866,934 , GRCh38.p12 chr2: 146,106,836-146,109,366 0
    esv2763828copy number variation173estd203human GRCh38.p12 chr4: 69,248,737-69,453,762 , GRCh37.p13 chr4: 70,114,455-70,319,480 , NCBI36 chr4: 70,149,044-70,354,069 UGT2B28, UGT2B25P, 6 more genes
    esv2763691copy number variation211estd203human NCBI36 chr1: 146,395,960-148,068,057 , GRCh37.p13 chr1: 147,929,336-149,801,433 , GRCh38.p12 chr1: 146,347,888-149,572,857 , GRCh38.p12 chr16: 34,632,766-36,215,339 , GRCh38.p12 chr7: 61,007,842-62,425,182 BCL9, FMO5, 174 more genes
    esv2763931copy number variation74estd203human NCBI36 chr5: 180,311,316-180,460,061 , GRCh37.p13 chr5: 180,378,710-180,527,455 , GRCh38.p12 chr5: 180,951,710-181,100,455 FOXO1B, TRV-CAC1-2, 12 more genes
    esv2763941copy number variation49estd203human NCBI36 chr6: 29,944,615-30,029,106 , GRCh37.p13 chr6|NT_167245.1: 1,137,233-1,196,903 , GRCh37.p13 chr6|NT_167246.1: 1,157,859-1,219,730 , GRCh37.p13 chr6: 29,836,636-29,921,127 , GRCh38.p12 chr6: 29,868,859-29,953,350 , GRCh38.p12 chr6|NT_167246.2: 1,152,239-1,214,110 HLA-A, HLA-H, 11 more genes
    esv2763763copy number variation104estd203human NCBI36 chr3: 100,420,474-100,436,451 , GRCh37.p13 chr3: 98,937,784-98,953,761 , GRCh38.p12 chr3: 99,218,940-99,234,917 0
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