A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670326



Internal ID2903413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:102106836..102108693hg38UCSC Ensembl
Outerchr14:102106679..102108846hg38UCSC Ensembl
Innerchr14:102573173..102575030hg19UCSC Ensembl
Outerchr14:102573016..102575183hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg382168
hg192168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5639804, essv5448867, essv5517087, essv5398105, essv6005652, essv6244983, essv5480554, essv6251218
SamplesNA19819, HG01148, NA19377, NA18498, NA20334, NA18502, NA19704, NA19130
Known GenesHSP90AA1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670326
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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