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Items: 1 to 20 of 128

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    esv2421607copy number variation228estd195human NCBI36 chr14: 40,679,974-40,738,084 , GRCh37.p13 chr14: 41,610,224-41,668,334 , GRCh38.p12 chr14: 41,141,021-41,199,131 LINC02315
    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
    esv2422044copy number variation756estd195human NCBI36 chr2: 97,507,179-97,531,181 , GRCh37.p13 chr2: 98,146,258-98,164,749 , GRCh38.p12 chr2: 97,524,284-97,548,286 ANKRD36B
    esv2421333copy number variation29estd195human NCBI36 chr16: 58,640,107-58,654,487 , GRCh37.p13 chr16: 60,082,606-60,096,986 , GRCh38.p12 chr16: 60,048,702-60,063,082 LINC02141
    esv2421442copy number variation49estd195human NCBI36 chr4: 98,391,437-98,404,155 , GRCh37.p13 chr4: 98,172,414-98,185,132 , GRCh38.p12 chr4: 97,251,263-97,263,981 STPG2
    esv2421337copy number variation64estd195human NCBI36 chr8: 15,446,378-15,457,818 , GRCh37.p13 chr8: 15,402,007-15,413,447 , GRCh38.p12 chr8: 15,544,498-15,555,938 TUSC3
    esv2422105copy number variation104estd195human NCBI36 chr1: 22,193,102-22,203,126 , GRCh37.p13 chr1: 22,320,515-22,330,539 , GRCh38.p12 chr1: 21,994,022-22,004,046 CELA3A
    esv2421893copy number variation109estd195human NCBI36 chr18: 64,897,086-64,906,488 , GRCh37.p13 chr18: 66,746,106-66,755,508 , GRCh38.p12 chr18: 69,078,869-69,088,271 CCDC102B
    esv2421899copy number variation280estd195human NCBI36 chr3: 116,143,282-116,151,640 , GRCh37.p13 chr3: 114,660,592-114,668,950 , GRCh38.p12 chr3: 114,941,745-114,950,103 ZBTB20
    esv2422019copy number variation523estd195human NCBI36 chr8: 144,772,135-144,780,417 , GRCh37.p13 chr8: 144,700,992-144,709,274 , GRCh38.p12 chr8: 143,618,822-143,627,104 LOC105375798
    esv2421747copy number variation118estd195human NCBI36 chr2: 49,387,002-49,394,694 , GRCh37.p13 chr2: 49,533,498-49,541,190 , GRCh38.p12 chr2: 49,306,359-49,314,051 LOC105374595
    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
    esv2421549copy number variation235estd195human NCBI36 chr6: 19,150,160-19,156,771 , GRCh37.p13 chr6: 19,042,181-19,048,792 , GRCh38.p12 chr6: 19,041,950-19,048,561 LOC105374958
    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
    esv2421804copy number variation347estd195human NCBI36 chr13: 31,430,622-31,436,423 , GRCh37.p13 chr13: 32,532,622-32,538,423 , GRCh38.p12 chr13: 31,958,485-31,964,286 EEF1DP3
    esv2421911copy number variation770estd195human NCBI36 chr4: 173,224,311-173,229,756 , GRCh37.p13 chr4: 172,987,736-172,993,181 , GRCh38.p12 chr4: 172,066,585-172,072,030 GALNTL6
    esv2422167copy number variation370estd195human NCBI36 chr12: 69,158,942-69,164,294 , GRCh37.p13 chr12: 70,872,675-70,878,027 , GRCh38.p12 chr12: 70,478,895-70,484,247
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