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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
    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
    esv2421449copy number variation100estd195human NCBI36 chr3: 53,003,023-53,014,529 , GRCh37.p13 chr3: 53,027,983-53,039,489 , GRCh38.p12 chr3: 52,993,967-53,005,473 SFMBT1
    esv2421339copy number variation124estd195human NCBI36 chr12: 126,141,646-126,151,541 , GRCh37.p13 chr12: 127,575,693-127,585,588 , GRCh38.p12 chr12: 127,091,148-127,101,043 , GRCh38.p12 chr12|NW_019805499.1: 37,672-47,567 LOC107984449
    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
    esv2421958copy number variation93estd195human NCBI36 chr7: 90,869,441-90,878,663 , GRCh37.p13 chr7: 91,031,505-91,040,727 , GRCh38.p12 chr7: 91,402,190-91,411,412 LINC02932
    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
    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
    esv2421549copy number variation235estd195human NCBI36 chr6: 19,150,160-19,156,771 , GRCh37.p13 chr6: 19,042,181-19,048,792 , GRCh38.p12 chr6: 19,041,950-19,048,561 LOC105374958
    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
    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
    esv2421563copy number variation482estd195human NCBI36 chr3: 133,190,847-133,195,707 , GRCh37.p13 chr3: 131,708,157-131,713,017 , GRCh38.p12 chr3: 131,989,313-131,994,173 CPNE4
    esv2421572copy number variation536estd195human NCBI36 chr15: 74,678,296-74,682,830 , GRCh37.p13 chr15: 76,891,241-76,895,775 , GRCh38.p12 chr15: 76,598,900-76,603,434 SCAPER
    esv2421564copy number variation219estd195human NCBI36 chr6: 66,456,203-66,460,573 , GRCh37.p13 chr6: 66,399,482-66,403,852 , GRCh38.p12 chr6: 65,689,589-65,693,959 EYS
    esv2421523copy number variation929estd195human NCBI36 chr6: 165,647,807-165,651,918 , GRCh37.p13 chr6: 165,727,817-165,731,928 , GRCh38.p12 chr6: 165,314,328-165,318,439 LOC105378113
    esv2421780copy number variation476estd195human NCBI36 chr1: 108,535,014-108,539,019 , GRCh37.p13 chr1: 108,733,491-108,737,496 , GRCh38.p12 chr1: 108,190,869-108,194,874 , GRCh38.p12 chr1|NW_017852928.1: 203,039-207,044 SLC25A24
    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
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