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Items: 1 to 20 of 13153

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv1003105copy number variation1estd180human NCBI36 chr12: 81,690,952-81,737,652 , GRCh37.p13 chr12: 83,166,821-83,213,521 , GRCh38.p12 chr12: 82,773,042-82,819,742 TMTC2
    esv1000434copy number variation1estd180human NCBI36 chr18: 70,240,950-70,283,616 , GRCh37.p13 chr18: 72,089,970-72,132,636 , GRCh38.p12 chr18: 74,422,735-74,465,401 DIPK1C
    esv1010993copy number variation1estd180human NCBI36 chr1: 143,592,748-143,631,036 , GRCh37.p13 chr1|NW_003871055.3: 5,780,209-5,818,494 , GRCh37.p13 chr1: 144,881,391-144,919,679 , GRCh38.p12 chr1: 148,964,796-149,003,081 PDE4DIP
    esv995112copy number variation1estd180human NCBI36 chr20: 1,508,244-1,542,529 , GRCh37.p13 chr20: 1,560,244-1,594,529 , GRCh38.p12 chr20: 1,579,598-1,613,883 SIRPB1
    esv1004567copy number variation1estd180human NCBI36 chr8: 133,474,433-133,508,417 , GRCh37.p13 chr8: 133,405,251-133,439,235 , GRCh38.p12 chr8: 132,393,004-132,426,988 KCNQ3
    esv999575copy number variation1estd180human NCBI36 chr1: 2,577,640-2,610,115 , GRCh37.p13 chr1: 2,587,780-2,620,255 , GRCh38.p12 chr1: 2,656,341-2,688,816 , GRCh38.p12 chr1|NT_187515.1: 219,010-249,391 TTC34
    esv991034copy number variation1estd180human NCBI36 chr19: 8,241,073-8,273,131 , GRCh37.p13 chr19: 8,335,073-8,367,131 , GRCh38.p12 chr19: 8,270,189-8,302,247 CD320
    esv993090copy number variation1estd180human NCBI36 chr1: 167,487,482-167,516,026 , GRCh37.p13 chr1: 169,220,858-169,249,402 , GRCh38.p12 chr1: 169,251,620-169,280,164 NME7
    esv993198copy number variation1estd180human NCBI36 chr2: 19,044,579-19,090,180 , GRCh37.p13 chr2: 19,181,098-19,226,699 , GRCh38.p12 chr2: 18,999,825-19,026,944 LINC01376
    esv1001714copy number variation1estd180human NCBI36 chr6: 77,492,563-77,518,357 , GRCh37.p13 chr6: 77,435,844-77,461,638 , GRCh38.p12 chr6: 76,726,127-76,751,921 LOC105377861
    esv990020copy number variation1estd180human NCBI36 chr11: 1,870,727-1,895,236 , GRCh37.p13 chr11: 1,914,151-1,938,660 , GRCh38.p12 chr11: 1,892,921-1,917,430 LINC01150
    esv994991copy number variation1estd180human NCBI36 chr17: 103,409-109,537 , GRCh37.p13 chr17|NW_004070872.2: 193,616-199,744 , GRCh38.p12 chr17: 253,618-259,746 , GRCh38.p12 chr17|NW_003315952.3: 205,127-228,280 RPH3AL
    esv1003020copy number variation1estd180human NCBI36 chr1: 22,063,120-22,084,921 , GRCh37.p13 chr1: 22,190,533-22,212,334 , GRCh38.p12 chr1: 21,864,040-21,885,841 HSPG2
    esv1010082copy number variation1estd180human NCBI36 chr8: 2,235,362-2,257,025 , GRCh37.p13 chr8|NW_003571042.1: 282,566-304,229 , GRCh37.p13 chr8: 2,247,955-2,269,618 , GRCh38.p12 chr8|NT_187576.1: 483,165-504,828 LOC105377783
    esv989936copy number variation1estd180human NCBI36 chr2: 179,769,436-179,789,867 , GRCh37.p13 chr2: 180,061,191-180,081,622 , GRCh38.p12 chr2: 179,196,464-179,216,895 SESTD1
    esv1002951copy number variation1estd180human NCBI36 chr15: 74,669,127-74,688,834 , GRCh37.p13 chr15: 76,882,072-76,901,779 , GRCh38.p12 chr15: 76,589,731-76,609,438 SCAPER
    esv987735copy number variation1estd180human NCBI36 chr19: 50,937,263-50,956,210 , GRCh37.p13 chr19: 46,245,423-46,264,370 , GRCh38.p12 chr19: 45,742,165-45,761,112 MEIOSIN
    esv1000794copy number variation1estd180human NCBI36 chr11: 106,736,657-106,754,387 , GRCh37.p13 chr11: 107,231,447-107,249,177 , GRCh38.p12 chr11: 107,360,721-107,378,451 CWF19L2
    esv1000689copy number variation1estd180human NCBI36 chr10: 124,350,253-124,367,546 , GRCh37.p13 chr10: 124,360,263-124,377,556 , GRCh38.p12 chr10: 122,600,747-122,618,040 DMBT1
    esv989305copy number variation1estd180human NCBI36 chr5: 57,713,765-57,731,012 , GRCh37.p13 chr5: 57,678,008-57,695,255 , GRCh38.p12 chr5: 58,382,181-58,399,428 LOC105378984
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