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Items: 1 to 20 of 164

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    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
    esv2421776copy number variation29estd195human NCBI36 chr3: 6,194,093-6,215,260 , GRCh37.p13 chr3: 6,219,093-6,240,260 , GRCh38.p12 chr3: 6,177,406-6,198,573 LOC105376942
    esv2421983copy number variation12estd195human NCBI36 chr4: 65,502,562-65,523,175 , GRCh37.p13 chr4: 65,819,967-65,840,580 , GRCh38.p12 chr4: 64,954,249-64,974,862 LINC02232
    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
    esv2421726copy number variation112estd195human NCBI36 chr6: 78,936,990-78,955,234 , GRCh37.p13 chr6: 78,880,271-78,898,515 , GRCh38.p12 chr6: 78,170,554-78,188,798 LOC105377865
    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
    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
    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
    esv2421693copy number variation413estd195human NCBI36 chr1: 167,493,526-167,508,390 , GRCh37.p13 chr1: 169,226,902-169,241,766 , GRCh38.p12 chr1: 169,257,664-169,272,528 NME7
    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
    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
    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
    esv2422027copy number variation200estd195human NCBI36 chr4: 107,156,053-107,165,884 , GRCh37.p13 chr4: 106,936,604-106,946,435 , GRCh38.p12 chr4: 106,015,447-106,025,278 LOC101929577
    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
    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
    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
    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
    esv2421373copy number variation39estd195human NCBI36 chr12: 60,488,837-60,497,087 , GRCh37.p13 chr12: 62,202,570-62,210,820 , GRCh38.p12 chr12: 61,808,789-61,817,039 TAFA2
    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
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