A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14317793



Internal ID4319609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:132945615..133076313hg38UCSC Ensembl
chr11:132815510..132946208hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38130699
hg19130699
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628134
Supporting Variants
SamplesNA20763
Known GenesOPCML
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14317793
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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