A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665744



Internal ID9931849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:32776726..32788590hg38UCSC Ensembl
Outerchr21:32776683..32788648hg38UCSC Ensembl
Innerchr21:34149037..34160901hg19UCSC Ensembl
Outerchr21:34148994..34160959hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3811966
hg1911966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5678926
SamplesNA18546
Known GenesC21orf49
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665744
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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