A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6295606



Internal ID9273009
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 Flag1
Merged StatusS
Merged Variantsesv2675254
Supporting Variants
SamplesNA20796
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6295606
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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