A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670543



Internal ID9589962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:85650144..85651757hg38UCSC Ensembl
chr4:86571297..86572910hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg381614
hg191614
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670543
Frequency
Sample Size1151
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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