A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6931165



Internal ID9693785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:73149018..73149309hg38UCSC Ensembl
Outerchr8:74061253..74061544hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737161, esv2737154
Supporting Variants
SamplesSSM020
Known Genes
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)essv6931165
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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