A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6970730



Internal ID9727825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:111949731..112188676hg38UCSC Ensembl
Outerchr11:111820455..112059399hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38238946
hg19238945
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745077
Supporting Variants
SamplesSSM028
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)essv6970730
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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