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Items: 1 to 20 of 132

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv2421976copy number variation508estd195human NCBI36 chr9: 44,667,855-44,777,523 , GRCh37.p13 chr9: 44,727,859-44,837,527 , GRCh38.p12 chr9: 61,520,021-61,629,689 LOC105379437
    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
    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
    esv2421709copy number variation526estd195human NCBI36 chr7: 133,435,717-133,449,737 , GRCh37.p13 chr7: 133,785,177-133,799,197 , GRCh38.p12 chr7: 134,100,424-134,114,444
    esv2422030copy number variation614estd195human NCBI36 chr2: 179,775,437-179,787,389 , GRCh37.p13 chr2: 180,067,192-180,079,144 , GRCh38.p12 chr2: 179,202,465-179,214,417 SESTD1
    esv2422027copy number variation200estd195human NCBI36 chr4: 107,156,053-107,165,884 , GRCh37.p13 chr4: 106,936,604-106,946,435 , GRCh38.p12 chr4: 106,015,447-106,025,278 LOC101929577
    esv2421536copy number variation303estd195human NCBI36 chr4: 20,977,437-20,985,949 , GRCh37.p13 chr4: 21,368,339-21,376,851 , GRCh38.p12 chr4: 21,366,716-21,375,228 KCNIP4
    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
    esv2422037copy number variation115estd195human NCBI36 chr3: 37,954,886-37,961,932 , GRCh37.p13 chr3: 37,979,882-37,986,928 , GRCh38.p12 chr3: 37,938,391-37,945,437 CTDSPL
    esv2421553copy number variation425estd195human NCBI36 chr1: 151,028,547-151,035,324 , GRCh37.p13 chr1: 152,761,923-152,768,700 , GRCh38.p12 chr1: 152,789,447-152,796,224 LCE1D
    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
    esv2422000copy number variation68estd195human NCBI36 chr4: 171,504,519-171,509,733 , GRCh37.p13 chr4: 171,267,944-171,273,158 , GRCh38.p12 chr4: 170,346,793-170,352,007 LINC02512
    esv2422087copy number variation1023estd195human NCBI36 chr5: 177,160,157-177,165,211 , GRCh37.p13 chr5: 177,227,551-177,232,605 , GRCh38.p12 chr5: 177,800,550-177,805,604 LOC105377752
    esv2421996copy number variation43estd195human NCBI36 chr4: 188,080,720-188,085,290 , GRCh37.p13 chr4: 187,843,726-187,848,296 , GRCh38.p12 chr4: 186,922,572-186,927,142 , GRCh38.p12 chr4|NT_187542.1: 2,181-6,751 LOC102723906
    esv2421348copy number variation178estd195human NCBI36 chr3: 194,619,170-194,623,042 , GRCh37.p13 chr3: 193,136,476-193,140,348 , GRCh38.p12 chr3: 193,418,687-193,422,559 ATP13A4
    esv2421402copy number variation1106estd195human NCBI36 chr4: 173,661,522-173,665,218 , GRCh37.p13 chr4: 173,424,947-173,428,643 , GRCh38.p12 chr4: 172,503,796-172,507,492 GALNTL6
    esv2421855copy number variation977estd195human NCBI36 chr8: 584,761-588,391 , GRCh37.p13 chr8: 594,761-598,391 , GRCh38.p12 chr8: 644,761-648,391 ERICH1
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