A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677326



Internal ID9943431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:80356983..80359971hg38UCSC Ensembl
Outerchr14:80356946..80360021hg38UCSC Ensembl
Innerchr14:80823326..80826314hg19UCSC Ensembl
Outerchr14:80823289..80826364hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg383076
hg193076
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6298583, essv5615290
SamplesNA11995, HG01082
Known GenesDIO2-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677326
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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