A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6897607



Internal ID10291765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:128916021..128916256hg38UCSC Ensembl
Outerchr11:128785916..128786151hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745243, esv2745242
Supporting Variants
SamplesSSM099
Known GenesKCNJ5
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)essv6897607
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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