A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6936042



Internal ID9698346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:111949725..112188716hg38UCSC Ensembl
Outerchr11:111820449..112059439hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38238992
hg19238991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745077
Supporting Variants
SamplesSSM021
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)essv6936042
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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