A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737163



Internal ID9971499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:73175184..73175660hg38UCSC Ensembl
Outerchr8:74087419..74087895hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38477
hg19477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6970110, essv6958167, essv6827071, essv6866368
SamplesSSM028, SSM026, SSM089, SSM080
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)esv2737163
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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