A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664162



Internal ID9930267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:548187..556467hg38UCSC Ensembl
Outerchr20:548000..556631hg38UCSC Ensembl
Innerchr20:528831..537111hg19UCSC Ensembl
Outerchr20:528644..537275hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg388632
hg198632
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5459288, essv5894211, essv6559872
SamplesNA19904, HG00690, HG00698
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664162
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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