A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737156



Internal ID9971492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:72064562..72239982hg38UCSC Ensembl
Outerchr8:72976797..73152217hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38175421
hg19175421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6760538, essv6944212, essv6712457, essv6876214, essv6734800, essv6691076, essv6672133
SamplesSSM036, SSM042, SSM023, SSM092, SSM061, SSM031, SSM049
Known GenesLOC392232, TRPA1
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)esv2737156
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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