A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736753



Internal ID9971085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:23142970..23143375hg38UCSC Ensembl
Outerchr8:23000483..23000888hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38406
hg19406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6733510, essv6866318, essv6958093, essv6727713, essv6716141, essv6873224
SamplesSSM046, SSM026, SSM089, SSM007, SSM091, SSM043
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)esv2736753
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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