A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6688986



Internal ID9755571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:23663524..23794229hg38UCSC Ensembl
Outerchr20:23644161..23774866hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38130706
hg19130706
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722303
Supporting Variants
SamplesSSM035
Known GenesCST1, CST4
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)essv6688986
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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