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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
    esv2421985copy number variation23estd195human NCBI36 chr13: 36,985,145-37,017,096 , GRCh37.p13 chr13: 38,087,145-38,119,096 , GRCh38.p12 chr13: 37,513,008-37,544,959 LINC00547
    esv2421852copy number variation55estd195human NCBI36 chr13: 56,766,542-56,786,987 , GRCh37.p13 chr13: 57,868,541-57,888,986 , GRCh38.p12 chr13: 57,294,407-57,314,852 SLC25A5P4
    esv2421826copy number variation134estd195human NCBI36 chr2: 203,004,020-203,020,446 , GRCh37.p13 chr2: 203,295,775-203,312,201 , GRCh38.p12 chr2: 202,431,052-202,447,478 BMPR2
    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
    esv2421713copy number variation78estd195human NCBI36 chr7: 6,091,907-6,104,637 , GRCh37.p13 chr7: 6,125,381-6,138,111 , GRCh38.p12 chr7: 6,085,750-6,098,480 USP42
    esv2421938copy number variation125estd195human NCBI36 chr8: 16,306,618-16,319,032 , GRCh37.p13 chr8: 16,262,247-16,274,661 , GRCh38.p12 chr8: 16,404,738-16,417,152 LOC101929028
    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
    esv2422012copy number variation561estd195human NCBI36 chr13: 71,375,556-71,387,378 , GRCh37.p13 chr13: 72,477,555-72,489,377 , GRCh38.p12 chr13: 71,903,417-71,915,239 RPS10P21
    esv2421772copy number variation14estd195human NCBI36 chr6: 162,416,281-162,426,558 , GRCh37.p13 chr6: 162,496,291-162,506,568 , GRCh38.p12 chr6: 162,075,259-162,085,536 PRKN
    esv2421547copy number variation82estd195human NCBI36 chr3: 127,194,960-127,204,552 , GRCh37.p13 chr3: 125,712,270-125,721,862 , GRCh38.p12 chr3: 125,993,427-126,003,019 ALG1L1P
    esv2421437copy number variation23estd195human NCBI36 chr1: 208,671,369-208,680,239 , GRCh37.p13 chr1: 210,604,746-210,613,616 , GRCh38.p12 chr1: 210,431,402-210,440,272 , GRCh38.p12 chr1|NW_011332687.1: 211,144-220,014 HHAT
    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
    esv2421899copy number variation280estd195human NCBI36 chr3: 116,143,282-116,151,640 , GRCh37.p13 chr3: 114,660,592-114,668,950 , GRCh38.p12 chr3: 114,941,745-114,950,103 ZBTB20
    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
    esv2421422copy number variation80estd195human NCBI36 chr8: 120,088,774-120,097,052 , GRCh37.p13 chr8: 120,019,593-120,027,871 , GRCh38.p12 chr8: 119,007,354-119,015,632 COLEC10
    esv2421568copy number variation187estd195human NCBI36 chr4: 152,095,801-152,103,763 , GRCh37.p13 chr4: 151,876,351-151,884,313 , GRCh38.p12 chr4: 150,955,199-150,963,161 LRBA
    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
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