A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6948413



Internal ID9709049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19234055..19234347hg38UCSC Ensembl
Outerchr8:19091565..19091857hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736715, esv2736713
Supporting Variants
SamplesSSM024
Known GenesLOC100128993
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)essv6948413
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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