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Results: 1 to 20 of 399

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv3478074copy number variation1estd59human GRCh37.p13 chr7|NW_003871065.1: 450,099-453,898 , GRCh38 (hg38) chr7: 130,770,868-130,774,667 , NCBI36 (hg18) chr7: 130,106,167-130,109,966 0
    esv3478073copy number variation5estd59human GRCh37.p13 chr7|NW_003871065.1: 450,085-453,901 , GRCh38 (hg38) chr7: 130,770,854-130,774,670 , NCBI36 (hg18) chr7: 130,106,153-130,109,969 0
    esv3423336copy number variation2estd59human NCBI36 (hg18) chr7: 130,204,550-130,204,615 , GRCh37.p13 chr7|NW_003871065.1: 548,482-548,547 , GRCh38 (hg38) chr7: 130,869,251-130,869,316 0
    esv3410109copy number variation1estd59human NCBI36 (hg18) chr7: 129,945,731-129,946,113 , GRCh37.p13 chr7|NW_003871065.1: 289,554-289,936 , GRCh38 (hg38) chr7: 130,610,323-130,610,705 COPG2
    esv3380893copy number variation1estd59human NCBI36 (hg18) chr7: 129,833,782-129,834,158 , GRCh37.p13 chr7|NW_003871065.1: 62,123-62,499 , GRCh38 (hg38) chr7: 130,406,705-130,407,081 CEP41
    esv3369750copy number variation1estd59human NCBI36 (hg18) chr7: 129,860,617-129,861,069 , GRCh37.p13 chr7|NW_003871065.1: 88,958-89,410 , GRCh38 (hg38) chr7: 130,433,540-130,433,992 CEP41
    esv3359884copy number variation3estd59human GRCh37.p13 chr7|NW_003871065.1: 450,095-453,900 , GRCh38 (hg38) chr7: 130,770,864-130,774,669 , NCBI36 (hg18) chr7: 130,106,163-130,109,968 0
    esv3358295copy number variation1estd59human NCBI36 (hg18) chr7: 130,130,288-130,130,834 , GRCh37.p13 chr7|NW_003871065.1: 474,220-474,766 , GRCh38 (hg38) chr7: 130,794,989-130,795,535 0
    esv3353062copy number variation1estd59human NCBI36 (hg18) chr7: 130,244,643-130,244,847 , GRCh37.p13 chr7|NW_003871065.1: 588,575-588,779 , GRCh38 (hg38) chr7: 130,909,344-130,909,548 LINC-PINT
    nsv966888copy number variation97nstd82western gorilla NCBI36 (hg18) chr7: 129,932,083-129,933,307 , GRCh37.p13 chr7|NW_003871065.1: 160,424-161,648 , GRCh38 (hg38) chr7: 130,505,006-130,506,230 MEST
    esv23964sequence alteration1estd20human NCBI36 (hg18) chr7: 129,771,512-129,815,607 , GRCh37.p13 chr7|NW_003871065.1: 1-43,948 , GRCh38 (hg38) chr7: 130,344,436-130,388,530 CPA1, CPA5
    esv20713copy number variation2estd20human NCBI36 (hg18) chr7: 129,771,512-129,815,607 , GRCh37.p13 chr7|NW_003871065.1: 1-43,948 , GRCh38 (hg38) chr7: 130,344,436-130,388,530 CPA1, CPA5
    esv1784430copy number variation1estd22human NCBI36 (hg18) chr7: 130,161,626-130,161,628 , GRCh37.p13 chr7|NW_003871065.1: 505,558-505,560 , GRCh38 (hg38) chr7: 130,826,327-130,826,329 0
    esv1767959insertion1estd22human NCBI36 (hg18) chr7: 130,086,626-130,086,626 , GRCh37.p13 chr7|NW_003871065.1: 430,558-430,558 , GRCh38 (hg38) chr7: 130,751,327-130,751,327 0
    esv1761106copy number variation1estd22human NCBI36 (hg18) chr7: 129,773,325-129,773,326 , GRCh37.p13 chr7|NW_003871065.1: 1,666-1,667 , GRCh38 (hg38) chr7: 130,346,248-130,346,249 CPA5
    esv1755498insertion1estd22human NCBI36 (hg18) chr7: 130,267,907-130,267,907 , GRCh37.p13 chr7|NW_003871065.1: 611,839-611,839 , GRCh38 (hg38) chr7: 130,932,608-130,932,608 LINC-PINT
    esv1749513copy number variation1estd22human NCBI36 (hg18) chr7: 129,782,153-129,782,156 , GRCh37.p13 chr7|NW_003871065.1: 10,494-10,497 , GRCh38 (hg38) chr7: 130,355,076-130,355,079 CPA5
    esv1735063copy number variation1estd22human NCBI36 (hg18) chr7: 130,334,071-130,334,072 , GRCh37.p13 chr7|NW_003871065.1: 678,003-678,004 , GRCh38 (hg38) chr7: 130,998,772-130,998,773 LINC-PINT
    esv1729439copy number variation1estd22human NCBI36 (hg18) chr7: 130,152,354-130,152,355 , GRCh37.p13 chr7|NW_003871065.1: 496,286-496,287 , GRCh38 (hg38) chr7: 130,817,055-130,817,056 0
    esv1725979copy number variation1estd22human NCBI36 (hg18) chr7: 129,828,547-129,828,552 , GRCh37.p13 chr7|NW_003871065.1: 56,888-56,893 , GRCh38 (hg38) chr7: 130,401,470-130,401,475 CEP41

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