A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14278409



Internal ID4280225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:108432125..108587091hg38UCSC Ensembl
Innerchr11:108432164..108587053hg38UCSC Ensembl
Outerchr11:108432087..108587130hg38UCSC Ensembl
chr11:108302852..108457818hg19UCSC Ensembl
Innerchr11:108302891..108457780hg19UCSC Ensembl
Outerchr11:108302814..108457857hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38154967
hg19154967
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627677
Supporting Variants
SamplesHG00692
Known GenesC11orf65, EXPH5, KDELC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14278409
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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