A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737483



Internal ID3287979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:118947001..118947623hg38UCSC Ensembl
Outerchr8:119959240..119959862hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38623
hg19623
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6694915, essv6861131, essv6931198, essv6958236, essv6919569, essv6838074, essv6775188, essv6976061, essv6716202
SamplesSSM043, SSM020, SSM083, SSM017, SSM011, SSM066, SSM029, SSM037, SSM026
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)esv2737483
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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