A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670326



Internal ID4714660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:102573173..102575030hg19UCSC Ensembl
Outerchr14:102573016..102575183hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv5639804, essv5448867, essv5517087, essv5398105, essv6005652, essv6244983, essv5480554, essv6251218
SamplesNA19819, HG01148, NA19377, NA18498, NA20334, NA18502, NA19704, NA19130
Known GenesHSP90AA1
Method
Analysis
Platform
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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