A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2670543

Internal ID9589962
Location Information
TypeCoordinatesAssemblyOther Links
chr4:85650144..85651757hg38UCSC Ensembl
chr4:86571297..86572910hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6384778, essv5821035, essv5484932, essv5538061, essv6429311, essv5644048, essv6253780, essv5767574, essv5904494, essv5673388, essv5561415, essv5921595, essv6430792, essv5427193, essv5809968, essv5800462, essv6366861, essv5559972, essv6352996, essv5412407, essv6207409, essv6283891, essv5884302, essv6434032, essv6007212, essv6126168, essv6228357, essv5786096, essv5463968, essv5499430, essv6021424, essv6517542, essv5940062, essv5512510, essv5954427, essv5639291, essv6416874, essv6100012, essv5902131, essv5531018, essv6281074, essv6506373, essv6244889, essv6356293, essv5884906, essv6412999, essv6351140
SamplesNA18870, NA19248, NA18861, NA19712, NA19904, NA18523, NA19437, NA19311, NA20346, NA18516, NA19317, NA19359, NA19334, HG01082, NA18517, NA19920, NA19379, NA19834, NA19701, NA18488, NA19236, NA19474, NA18505, NA19472, NA18873, NA19463, NA19726, NA19428, NA18912, NA19383, NA18508, NA19917, NA19190, NA19213, NA19313, NA19380, NA19704, NA19707, NA19711, NA19462, NA19235, NA19394, NA19130, NA18853, HG01102, NA19473, NA19448
Known GenesARHGAP24
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2670543
Sample Size1151
Observed Gain0
Observed Loss47
Observed Complex0

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