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Items: 1 to 20 of 48

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv2761015copy number variation21estd203human NCBI36 chr6: 66,456,203-66,529,386 , GRCh37.p13 chr6: 66,399,482-66,472,665 , GRCh38.p12 chr6: 65,689,589-65,762,772 EYS
    esv2761227copy number variation98estd203human NCBI36 chr8: 13,638,629-13,697,923 , GRCh37.p13 chr8: 13,594,258-13,653,552 , GRCh38.p12 chr8: 13,736,749-13,796,043 LOC100419761
    esv2764211copy number variation98estd203human NCBI36 chr1: 111,161,258-111,195,028 , GRCh37.p13 chr1: 111,359,735-111,393,505 , GRCh38.p12 chr1: 110,817,113-110,850,883 NRBF2P3
    esv2761248copy number variation73estd203human NCBI36 chr9: 497,001-523,938 , GRCh37.p13 chr9: 507,001-533,938 , GRCh38.p12 chr9: 507,001-533,938 KANK1
    esv2761230copy number variation93estd203human NCBI36 chr8: 3,973,246-3,999,251 , GRCh37.p13 chr8: 3,985,838-4,011,843 , GRCh38.p12 chr8: 4,128,316-4,154,321 CSMD1
    esv2760729copy number variation69estd203human NCBI36 chr3: 127,188,736-127,205,022 , GRCh37.p13 chr3: 125,706,046-125,722,332 , GRCh38.p12 chr3: 125,987,203-126,003,489 ALG1L1P
    esv2760842copy number variation24estd203human NCBI36 chr4: 179,119,914-179,133,352 , GRCh37.p13 chr4: 178,882,920-178,896,358 , GRCh38.p12 chr4: 177,961,766-177,975,204 LINC01098
    esv2764204copy number variation116estd203human NCBI36 chr1: 105,814,277-105,823,898 , GRCh37.p13 chr1: 106,012,754-106,022,375 , GRCh38.p12 chr1: 105,470,132-105,479,753 LOC105378881
    esv2760306copy number variation60estd203human NCBI36 chr13: 31,429,015-31,438,047 , GRCh37.p13 chr13: 32,531,015-32,540,047 , GRCh38.p12 chr13: 31,956,878-31,965,910 EEF1DP3
    esv2761218copy number variation72estd203human NCBI36 chr8: 85,425,438-85,433,500 , GRCh37.p13 chr8: 85,262,883-85,270,945 , GRCh38.p12 chr8: 84,350,648-84,358,710 RALYL
    esv2762626copy number variation1estd203human NCBI36 chr6: 162,260,612-162,267,058 , GRCh37.p13 chr6: 162,340,622-162,347,068 , GRCh38.p12 chr6: 161,919,590-161,926,036 PRKN
    esv2760801copy number variation12estd203human NCBI36 chr3: 14,361,969-14,366,124 , GRCh37.p13 chr3: 14,386,965-14,391,120 , GRCh38.p12 chr3: 14,345,465-14,349,620 LINC01267
    esv2762730copy number variation1estd203human NCBI36 chr8: 14,523,463-14,526,847 , GRCh37.p13 chr8: 14,479,092-14,482,476 , GRCh38.p12 chr8: 14,621,583-14,624,967 SGCZ
    esv2762213copy number variation1estd203human NCBI36 chr1: 194,721,988-194,722,447 , GRCh37.p13 chr1: 196,455,365-196,455,824 , GRCh38.p12 chr1: 196,486,235-196,486,694 KCNT2
    esv2764189copy number variation4estd203human NCBI36 chr1: 69,884,477-69,910,101 , GRCh37.p13 chr1: 70,111,889-70,137,513 , GRCh38.p12 chr1: 69,646,206-69,671,830 LRRC7
    esv2760867copy number variation2estd203human NCBI36 chr4: 133,653,173-133,872,202 , GRCh37.p13 chr4: 133,433,723-133,652,752 , GRCh38.p12 chr4: 132,512,568-132,731,597 LINC01256, AARS1P1
    esv2760848copy number variation2estd203human NCBI36 chr4: 93,965,534-94,023,043 , GRCh37.p13 chr4: 93,746,511-93,804,020 , GRCh38.p12 chr4: 92,825,360-92,882,869 GRID2,
    esv2760253copy number variation149estd203human NCBI36 chr12: 11,394,393-11,444,049 , GRCh37.p13 chr12: 11,503,126-11,552,782 , GRCh38.p12 chr12: 11,350,192-11,399,848 , GRCh38.p12 chr12|NT_187658.1: 545,155-572,349 PRB1, PRB2
    esv2760392copy number variation98estd203human NCBI36 chr15: 74,665,417-74,690,251 , GRCh37.p13 chr15: 76,878,362-76,903,196 , GRCh38.p12 chr15: 76,586,021-76,610,855 SCAPER, MIR3713
    esv2761224copy number variation47estd203human NCBI36 chr8: 65,398,060-65,422,185 , GRCh37.p13 chr8: 65,235,506-65,259,631 , GRCh38.p12 chr8: 64,322,949-64,347,074 LINC01414, COX6CP8
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