A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667257



Internal ID2900344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3077704..3089510hg38UCSC Ensembl
Outerchr4:3077667..3089560hg38UCSC Ensembl
Innerchr4:3079431..3091237hg19UCSC Ensembl
Outerchr4:3079394..3091287hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3811894
hg1911894
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5749480
SamplesNA20786
Known GenesHTT
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667257
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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