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Items: 1 to 20 of 110

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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
    esv2421897complex substitution38estd195human NCBI36 chr19: 58,019,371-58,050,701 , GRCh37.p13 chr19: 53,327,559-53,358,889 , GRCh38.p12 chr19: 52,824,306-52,855,636 ZNF468
    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
    esv2421645copy number variation1129estd195human GRCh38.p12 chr6: 298,700-379,015 , NCBI36 chr6: 243,700-324,015 , GRCh37.p13 chr6: 298,700-379,015 DUSP22
    esv2421519copy number variation38estd195human GRCh38.p12 chr19: 15,668,643-15,719,658 , GRCh37.p13 chr19: 15,779,453-15,830,468 , NCBI36 chr19: 15,640,453-15,691,468 CYP4F12
    esv2421429copy number variation338estd195human NCBI36 chr20: 1,505,190-1,541,893 , GRCh37.p13 chr20: 1,557,190-1,593,893 , GRCh38.p12 chr20: 1,576,544-1,613,247 SIRPB1
    esv2422137copy number variation23estd195human GRCh38.p12 chr6: 124,114,796-124,149,220 , NCBI36 chr6: 124,477,640-124,512,064 , GRCh37.p13 chr6: 124,435,941-124,470,365 NKAIN2
    esv2421660copy number variation13estd195human GRCh38.p12 chr19: 12,395,059-12,422,445 , GRCh37.p13 chr19: 12,505,873-12,533,259 , NCBI36 chr19: 12,366,873-12,394,259 ZNF799
    esv2421918copy number variation123estd195human NCBI36 chr7: 138,342-164,003 , GRCh37.p13 chr7: 43,259-68,920 , GRCh38.p12 chr7: 43,902-68,920 , GRCh38.p12 chr7|NT_187558.1: 1-25,019 , GRCh38.p12 chr7|NT_187653.1: 36,223-61,241 LOC105375113
    esv2421349copy number variation14estd195human NCBI36 chr11: 134,085,524-134,108,160 , GRCh37.p13 chr11: 134,580,314-134,602,950 , GRCh38.p12 chr11: 134,710,420-134,733,056 LINC02706
    esv2421705copy number variation16estd195human GRCh38.p12 chr4: 25,554,958-25,576,891 , GRCh37.p13 chr4: 25,556,580-25,578,513 , NCBI36 chr4: 25,165,678-25,187,611 LOC101929161
    esv2421775copy number variation18estd195human GRCh38.p12 chr8: 121,308,320-121,329,706 , NCBI36 chr8: 122,389,741-122,411,127 , GRCh37.p13 chr8: 122,320,560-122,341,946
    esv2421796complex substitution34estd195human GRCh38.p12 chr9: 69,482,739-69,504,046 , NCBI36 chr9: 71,287,475-71,308,782 , GRCh37.p13 chr9: 72,097,655-72,118,962 APBA1
    esv2421534copy number variation17estd195human NCBI36 chr11: 107,158,291-107,176,811 , GRCh37.p13 chr11: 107,653,081-107,671,601 , GRCh38.p12 chr11: 107,782,355-107,800,875 SLC35F2
    esv2421843copy number variation20estd195human NCBI36 chr14: 19,590,795-19,609,202 , GRCh38.p12 chr14: 20,052,796-20,071,203 , GRCh37.p13 chr14: 20,520,955-20,539,362 OR4L1
    esv2421896copy number variation48estd195human GRCh38.p12 chr2: 227,378,594-227,394,141 , NCBI36 chr2: 227,951,554-227,967,101 , GRCh37.p13 chr2: 228,243,310-228,258,857 TM4SF20
    esv2422122complex substitution665estd195human GRCh38.p12 chr6: 29,869,411-29,881,490 , NCBI36 chr6: 29,945,167-29,957,246 , GRCh37.p13 chr6: 29,837,188-29,849,267 , GRCh38.p12 chr6|NT_167245.2: 1,132,200-1,138,345 , GRCh37.p13 chr6|NT_167245.1: 1,137,785-1,143,930 HCP5B
    esv2421647complex substitution144estd195human NCBI36 chr15: 30,291,556-30,303,265 , GRCh38.p12 chr15: 32,212,063-32,223,772 , GRCh37.p13 chr15: 32,504,264-32,515,973 LOC102724078
    esv2421990copy number variation103estd195human GRCh38.p12 chr8: 46,613,954-46,624,924 , NCBI36 chr8: 47,644,741-47,655,711 , GRCh37.p13 chr8: 47,525,576-47,536,546 ASNSP1
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