A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6867057



Internal ID9917146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:117926138..117926241hg38UCSC Ensembl
Outerchr11:117796853..117796956hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745121
Supporting Variants
SamplesSSM089
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)essv6867057
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer