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Items: 1 to 20 of 138

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv2421726copy number variation112estd195human NCBI36 chr6: 78,936,990-78,955,234 , GRCh37.p13 chr6: 78,880,271-78,898,515 , GRCh38.p12 chr6: 78,170,554-78,188,798 LOC105377865
    esv2421611copy number variation138estd195human NCBI36 chr10: 122,759,878-122,774,992 , GRCh37.p13 chr10: 122,769,888-122,785,002 , GRCh38.p12 chr10: 121,010,375-121,025,489 LOC105378521
    esv2421531copy number variation740estd195human NCBI36 chr10: 81,475,459-81,489,917 , GRCh37.p13 chr10: 81,485,267-81,499,734 , GRCh38.p12 chr10: 79,725,511-79,739,978 NUTM2B-AS1
    esv2421713copy number variation78estd195human NCBI36 chr7: 6,091,907-6,104,637 , GRCh37.p13 chr7: 6,125,381-6,138,111 , GRCh38.p12 chr7: 6,085,750-6,098,480 USP42
    esv2421718copy number variation132estd195human NCBI36 chr8: 75,478,412-75,490,452 , GRCh37.p13 chr8: 75,315,857-75,327,897 , GRCh38.p12 chr8: 74,403,622-74,415,662 GDAP1
    esv2421811copy number variation196estd195human NCBI36 chr1: 111,178,889-111,189,749 , GRCh37.p13 chr1: 111,377,366-111,388,226 , GRCh38.p12 chr1: 110,834,744-110,845,604 NRBF2P3
    esv2421772copy number variation14estd195human NCBI36 chr6: 162,416,281-162,426,558 , GRCh37.p13 chr6: 162,496,291-162,506,568 , GRCh38.p12 chr6: 162,075,259-162,085,536 PRKN
    esv2421547copy number variation82estd195human NCBI36 chr3: 127,194,960-127,204,552 , GRCh37.p13 chr3: 125,712,270-125,721,862 , GRCh38.p12 chr3: 125,993,427-126,003,019 ALG1L1P
    esv2421887copy number variation172estd195human NCBI36 chr2: 180,121,607-180,130,382 , GRCh37.p13 chr2: 180,413,362-180,422,137 , GRCh38.p12 chr2: 179,548,635-179,557,410 ZNF385B
    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
    esv2421568copy number variation187estd195human NCBI36 chr4: 152,095,801-152,103,763 , GRCh37.p13 chr4: 151,876,351-151,884,313 , GRCh38.p12 chr4: 150,955,199-150,963,161 LRBA
    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
    esv2422096copy number variation165estd195human NCBI36 chr1: 72,528,637-72,535,958 , GRCh37.p13 chr1: 72,756,049-72,763,370 , GRCh38.p12 chr1: 72,290,366-72,297,687 , GRCh38.p12 chr1|NW_018654707.1: 2,633-9,954 LOC105378797
    esv2421777copy number variation80estd195human NCBI36 chr8: 3,984,471-3,991,699 , GRCh37.p13 chr8: 3,997,063-4,004,291 , GRCh38.p12 chr8: 4,139,541-4,146,769 CSMD1
    esv2421435copy number variation23estd195human NCBI36 chr14: 45,671,842-45,678,725 , GRCh37.p13 chr14: 46,602,092-46,608,975 , GRCh38.p12 chr14: 46,132,889-46,139,772 LINC00871
    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
    esv2421342copy number variation45estd195human NCBI36 chr12: 15,459,190-15,464,910 , GRCh37.p13 chr12: 15,567,923-15,573,643 , GRCh38.p12 chr12: 15,414,989-15,420,709 PTPRO
    esv2422091copy number variation278estd195human NCBI36 chr1: 34,875,241-34,880,863 , GRCh37.p13 chr1: 35,102,654-35,108,276 , GRCh38.p12 chr1: 34,637,053-34,642,675 LOC105378641
    esv2421908copy number variation119estd195human NCBI36 chr12: 85,219,843-85,225,388 , GRCh37.p13 chr12: 86,695,712-86,701,257 , GRCh38.p12 chr12: 86,301,934-86,307,479 MGAT4C
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