A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6866318



Internal ID9916482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:23143019..23143363hg38UCSC Ensembl
Outerchr8:23000532..23000876hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736750, esv2736753
Supporting Variants
SamplesSSM089
Known GenesTNFRSF10D
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)essv6866318
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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