A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666038



Internal ID9585457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:42714327..42718470hg38UCSC Ensembl
Outerchr8:42714290..42718520hg38UCSC Ensembl
Innerchr8:42569470..42573613hg19UCSC Ensembl
Outerchr8:42569433..42573663hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg384231
hg194231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5518970
SamplesNA19428
Known GenesCHRNB3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666038
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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