A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6822981



Internal ID9877479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:23028888..23201125hg38UCSC Ensembl
Outerchr8:22886401..23058638hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38172238
hg19172238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736750
Supporting Variants
SamplesSSM079
Known GenesLOC254896, LOC286059, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D
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)essv6822981
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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