A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673073



Internal ID9939178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:55155993..55159270hg38UCSC Ensembl
Outerchr14:55155956..55159320hg38UCSC Ensembl
Innerchr14:55622711..55625988hg19UCSC Ensembl
Outerchr14:55622674..55626038hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg383365
hg193365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6359902
SamplesNA19716
Known GenesDLGAP5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673073
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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