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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
    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
    esv2422170copy number variation291estd195human NCBI36 chr6: 79,025,784-79,091,904 , GRCh37.p13 chr6: 78,969,065-79,035,185 , GRCh38.p12 chr6: 78,259,348-78,325,468 LOC105377865
    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
    esv2421934copy number variation236estd195human NCBI36 chr7: 141,412,174-141,439,888 , GRCh37.p13 chr7|NW_003571040.1: 207,856-235,570 , GRCh37.p13 chr7: 141,765,705-141,793,419 , GRCh38.p12 chr7: 142,065,905-142,093,619 , GRCh38.p12 chr7|NT_187562.1: 27,785-55,499 MGAM
    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
    esv2421810copy number variation13estd195human NCBI36 chr4: 17,153,430-17,177,254 , GRCh37.p13 chr4: 17,544,332-17,568,156 , GRCh38.p12 chr4: 17,542,709-17,566,533 NACAP5
    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
    esv2422017copy number variation96estd195human NCBI36 chr17: 14,984,651-14,998,961 , GRCh37.p13 chr17: 15,043,926-15,058,236 , GRCh38.p12 chr17: 15,140,609-15,154,919 LOC107984976
    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
    esv2422041copy number variation263estd195human NCBI36 chr21: 22,576,805-22,586,529 , GRCh37.p13 chr21|NW_003315968.1: 186,844-196,568 , GRCh37.p13 chr21: 23,654,934-23,664,658 , GRCh38.p12 chr21: 22,282,614-22,292,338 , GRCh38.p12 chr21|NW_003315968.2: 186,843-196,567 LOC107985508
    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
    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
    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
    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
    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
    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
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