A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14318161



Internal ID4319977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:133084832..133398445hg38UCSC Ensembl
chr11:132954727..133268340hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38313614
hg19313614
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628140
Supporting Variants
SamplesNA20763
Known GenesOPCML
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14318161
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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