A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6827638



Internal ID9881670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:114554192..114561197hg38UCSC Ensembl
Outerchr11:114424914..114431919hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg387006
hg197006
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745098
Supporting Variants
SamplesSSM080
Known GenesNXPE1
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)essv6827638
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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