A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6970110



Internal ID9728382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:73175227..73175658hg38UCSC Ensembl
Outerchr8:74087462..74087893hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38432
hg19432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737154, esv2737163
Supporting Variants
SamplesSSM028
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)essv6970110
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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