A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6971849



Internal ID9726817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63559473..63559759hg38UCSC Ensembl
Outerchr20:62190826..62191112hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722939, esv2722937
Supporting Variants
SamplesSSM028
Known GenesHELZ2
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)essv6971849
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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