A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671185



Internal ID9590604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:67139068..67140198hg38UCSC Ensembl
Outerchr14:67139031..67140248hg38UCSC Ensembl
Innerchr14:67605785..67606915hg19UCSC Ensembl
Outerchr14:67605748..67606965hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg381218
hg191218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6309590
SamplesNA19900
Known GenesGPHN
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671185
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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