A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6721566



Internal ID9783432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:23663523..23794275hg38UCSC Ensembl
Outerchr20:23644160..23774912hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38130753
hg19130753
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722303
Supporting Variants
SamplesSSM044
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)essv6721566
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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