A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675254



Internal ID9594673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47252060..47255379hg38UCSC Ensembl
Outerchr2:47252023..47255429hg38UCSC Ensembl
Innerchr2:47479199..47482518hg19UCSC Ensembl
Outerchr2:47479162..47482568hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383407
hg193407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6295606
SamplesNA20796
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675254
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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