A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2672088

Internal ID9591507
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:54008432..54019538hg38UCSC Ensembl
Outerchr12:54008061..54019908hg38UCSC Ensembl
Innerchr12:54402216..54413322hg19UCSC Ensembl
Outerchr12:54401845..54413692hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5463867, essv5427814, essv6480926, essv6299671, essv6475652, essv6552828, essv5706784, essv5904251, essv6226370, essv6516115, essv5515533, essv6180844, essv6152553, essv6550340, essv5884469, essv6451496, essv6352320, essv6325027, essv5658264, essv6418861, essv5539920, essv5575345, essv6542169, essv6098173, essv5412559, essv6260877, essv5483730, essv5488048, essv6327296, essv6224736, essv5533972, essv6313263, essv5448936, essv5501886, essv5917460, essv6420967, essv5704770, essv6068230, essv5824571, essv5890315, essv6505305, essv5665644, essv6252943, essv5414600, essv5853352, essv5488441, essv6563640
SamplesHG00323, HG00309, HG00313, HG00182, HG00344, HG00328, HG00369, HG00274, HG00186, HG00310, HG00368, HG00326, HG00280, HG00366, HG00331, HG00269, HG00342, HG00321, HG00339, HG00346, HG00179, HG00337, HG00315, HG00338, HG00178, HG00276, HG00284, HG00357, HG00343, HG00306, HG00373, HG00325, HG00185, HG00273, HG00282, HG00277, HG00329, HG00377, HG00181, HG00285, HG00367, HG00320, HG00324, HG00336, HG00272, HG00271, HG00361
Known GenesHOXC4, HOXC5, HOXC6, HOXC8
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2672088
Sample Size1151
Observed Gain0
Observed Loss47
Observed Complex0

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