A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737487



Internal ID3287983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:118947254..118947379hg38UCSC Ensembl
Outerchr8:119959493..119959618hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6861131
SamplesSSM011
Known GenesTNFRSF11B
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)esv2737487
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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