A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6810056



Internal ID9864768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:38895710..38896032hg38UCSC Ensembl
Outerchr20:37524353..37524675hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722402, esv2722403
Supporting Variants
SamplesSSM075
Known GenesPPP1R16B
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)essv6810056
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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