A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6908793



Internal ID9671937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:118096894..118097023hg38UCSC Ensembl
Outerchr11:117967609..117967738hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745122
Supporting Variants
SamplesSSM014
Known GenesTMPRSS4
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)essv6908793
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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