A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6887958



Internal ID9936134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:118096889..118097024hg38UCSC Ensembl
Outerchr11:117967604..117967739hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745122
Supporting Variants
SamplesSSM096
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)essv6887958
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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