A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6779393



Internal ID10184935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:112254917..112255104hg38UCSC Ensembl
Outerchr11:112125640..112125827hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745078, esv2745079
Supporting Variants
SamplesSSM067
Known GenesPLET1
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)essv6779393
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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