A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6831247



Internal ID9884918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:111949718..112188643hg38UCSC Ensembl
Outerchr11:111820442..112059366hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38238926
hg19238925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745077
Supporting Variants
SamplesSSM081
Known GenesBCO2, C11orf57, DIXDC1, DLAT, IL18, PIH1D2, SDHD, TEX12, TIMM8B
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)essv6831247
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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