A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14318219



Internal ID4320035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:133287960..133291470hg38UCSC Ensembl
Innerchr11:133287960..133291470hg38UCSC Ensembl
Outerchr11:133287748..133291686hg38UCSC Ensembl
chr11:133157855..133161365hg19UCSC Ensembl
Innerchr11:133157855..133161365hg19UCSC Ensembl
Outerchr11:133157643..133161581hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg383511
hg193511
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628147
Supporting Variants
SamplesNA19834
Known GenesOPCML
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14318219
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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