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Items: 1 to 20 of 125

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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
    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
    esv2422162copy number variation79estd195human NCBI36 chr11: 49,667,437-49,714,247 , GRCh37.p13 chr11: 49,710,861-49,757,671 , GRCh38.p12 chr11: 49,689,309-49,736,119 , GRCh38.p12 chr11|NW_019805495.1: 153,491-200,268 GRM5P1
    esv2421597copy number variation32estd195human NCBI36 chr3: 89,477,282-89,502,071 , GRCh37.p13 chr3: 89,394,592-89,419,381 , GRCh38.p12 chr3: 89,345,442-89,370,231 EPHA3
    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
    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
    esv2421406copy number variation161estd195human NCBI36 chr1: 59,816,510-59,830,867 , GRCh37.p13 chr1: 60,043,922-60,058,279 , GRCh38.p12 chr1: 59,578,250-59,592,607 FGGY
    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
    esv2421794copy number variation55estd195human NCBI36 chr12: 12,424,251-12,433,136 , GRCh37.p13 chr12: 12,532,984-12,541,869 , GRCh38.p12 chr12: 12,380,050-12,388,935 , GRCh38.p12 chr12|NW_011332696.1: 349,052-357,937 BORCS5
    esv2421907copy number variation49estd195human NCBI36 chr1: 211,068,711-211,077,059 , GRCh37.p13 chr1: 213,002,088-213,010,436 , GRCh38.p12 chr1: 212,828,746-212,837,094 SPATA45
    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
    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
    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
    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
    esv2421868copy number variation618estd195human NCBI36 chr12: 44,190,705-44,195,804 , GRCh37.p13 chr12: 45,904,438-45,909,537 , GRCh38.p12 chr12: 45,510,655-45,515,754 LOC105369743
    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
    esv2422082copy number variation125estd195human NCBI36 chr12: 739,370-744,290 , GRCh37.p13 chr12: 869,109-874,029 , GRCh38.p12 chr12: 759,943-764,863 WNK1
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