A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6874632



Internal ID9923964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:32771687..32772131hg38UCSC Ensembl
Outerchr21:34143998..34144442hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38445
hg19445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723346
Supporting Variants
SamplesSSM091
Known GenesC21orf49, PAXBP1
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6874632
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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