A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6927866



Internal ID9690477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:117926078..117926225hg38UCSC Ensembl
Outerchr11:117796793..117796940hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745121
Supporting Variants
SamplesSSM019
Known GenesTMPRSS13
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)essv6927866
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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