A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668280



Internal ID9934385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:94938625..94938687hg38UCSC Ensembl
Outerchr14:94938468..94938840hg38UCSC Ensembl
Innerchr14:95404962..95405024hg19UCSC Ensembl
Outerchr14:95404805..95405177hg19UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg38373
hg19373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6006388, essv6350871, essv6504069, essv5801647, essv6445093, essv6206377, essv6063186, essv6178295, essv5426122, essv6398553, essv5678738, essv6358570
SamplesHG00699, NA18595, HG00689, HG00634, HG01080, HG01072, HG00422, HG00427, HG00708, NA19257, NA18570, HG00418
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668280
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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