A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6760538



Internal ID9821080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:72064562..72239975hg38UCSC Ensembl
Outerchr8:72976797..73152210hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38175414
hg19175414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737154, esv2737156
Supporting Variants
SamplesSSM061
Known GenesLOC392232, TRPA1
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)essv6760538
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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