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Items: 1 to 20 of 165

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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
    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
    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
    esv2422018copy number variation269estd195human NCBI36 chr11: 7,769,616-7,788,834 , GRCh37.p13 chr11: 7,813,040-7,832,258 , GRCh38.p12 chr11: 7,791,493-7,810,711 , GRCh38.p12 chr11|NT_187583.1: 12,361-31,579 , GRCh38.p12 chr11|NW_011332695.1: 12,361-31,581 OR5P2
    esv2421640copy number variation46estd195human NCBI36 chr11: 25,565,122-25,582,465 , GRCh37.p13 chr11: 25,608,546-25,625,889 , GRCh38.p12 chr11: 25,587,000-25,604,343 RPL36AP40
    esv2421611copy number variation138estd195human NCBI36 chr10: 122,759,878-122,774,992 , GRCh37.p13 chr10: 122,769,888-122,785,002 , GRCh38.p12 chr10: 121,010,375-121,025,489 LOC105378521
    esv2421718copy number variation132estd195human NCBI36 chr8: 75,478,412-75,490,452 , GRCh37.p13 chr8: 75,315,857-75,327,897 , GRCh38.p12 chr8: 74,403,622-74,415,662 GDAP1
    esv2421431copy number variation12estd195human NCBI36 chr2: 208,943,618-208,955,466 , GRCh37.p13 chr2: 209,235,373-209,247,221 , GRCh38.p12 chr2: 208,370,648-208,382,496 PTH2R
    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
    esv2421811copy number variation196estd195human NCBI36 chr1: 111,178,889-111,189,749 , GRCh37.p13 chr1: 111,377,366-111,388,226 , GRCh38.p12 chr1: 110,834,744-110,845,604 NRBF2P3
    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
    esv2421887copy number variation172estd195human NCBI36 chr2: 180,121,607-180,130,382 , GRCh37.p13 chr2: 180,413,362-180,422,137 , GRCh38.p12 chr2: 179,548,635-179,557,410 ZNF385B
    esv2421340copy number variation123estd195human NCBI36 chr8: 63,378,169-63,386,639 , GRCh37.p13 chr8: 63,215,615-63,224,085 , GRCh38.p12 chr8: 62,303,056-62,311,526 NKAIN3
    esv2421759copy number variation59estd195human NCBI36 chr1: 10,292,133-10,300,570 , GRCh37.p13 chr1: 10,369,546-10,377,983 , GRCh38.p12 chr1: 10,309,488-10,317,925 KIF1B
    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
    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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