A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275347



Internal ID1567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:118121090..118121838hg38UCSC Ensembl
Outerchr11:118118839..118124662hg38UCSC Ensembl
Innerchr11:117991805..117992553hg19UCSC Ensembl
Outerchr11:117989554..117995377hg19UCSC Ensembl
Innerchr11:117497015..117497763hg18UCSC Ensembl
Outerchr11:117494764..117500587hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg385824
hg195824
hg185824
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585823
Samples
Known GenesTMPRSS4
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275347
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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