A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6966952



Internal ID9990624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:140195345..140196322hg38UCSC Ensembl
Outerchr8:141205444..141206421hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38978
hg19978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737749
Supporting Variants
SamplesSSM004
Known GenesTRAPPC9
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)essv6966952
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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