A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998313



Internal ID7081716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:118046416..118050916hg38UCSC Ensembl
Outerchr11:117917131..117921631hg19UCSC Ensembl
Outerchr11:117422341..117426841hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg382778
hg192778
hg182778
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564633
SamplesHuRef
Known GenesTMPRSS4-AS1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998313
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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