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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    esv2421409complex substitution85estd195human NCBI36 chr16: 16,538,314-16,726,778 , GRCh37.p13 chr16: 16,630,813-16,819,277 , GRCh38.p12 chr16: 16,536,956-16,725,420 , GRCh38.p12 chr16|NT_187607.1: 2,198,016-2,386,344 LOC100133127
    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
    esv2421900copy number variation303estd195human NCBI36 chr16: 54,351,338-54,379,945 , GRCh37.p13 chr16: 55,793,837-55,822,444 , GRCh38.p12 chr16: 55,759,925-55,788,532 CES1P1
    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
    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
    esv2421442copy number variation49estd195human NCBI36 chr4: 98,391,437-98,404,155 , GRCh37.p13 chr4: 98,172,414-98,185,132 , GRCh38.p12 chr4: 97,251,263-97,263,981 STPG2
    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
    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
    esv2421653copy number variation48estd195human NCBI36 chr15: 45,994,758-46,001,995 , GRCh37.p13 chr15: 48,207,466-48,214,703 , GRCh38.p12 chr15: 47,915,269-47,922,506 LOC105370805
    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
    esv2421763copy number variation544estd195human NCBI36 chr3: 191,220,845-191,227,315 , GRCh37.p13 chr3: 189,738,151-189,744,621 , GRCh38.p12 chr3: 190,020,362-190,026,832 P3H2
    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
    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
    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
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