A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737216



Internal ID10320852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:80072232..80072561hg38UCSC Ensembl
Outerchr8:80984467..80984796hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6733843
SamplesSSM007
Known GenesTPD52
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)esv2737216
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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