A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14268510



Internal ID2202962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:105542383..105545842hg38UCSC Ensembl
Innerchr11:105542383..105545842hg38UCSC Ensembl
Outerchr11:105542312..105546018hg38UCSC Ensembl
chr11:105413110..105416569hg19UCSC Ensembl
Innerchr11:105413110..105416569hg19UCSC Ensembl
Outerchr11:105413039..105416745hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg383460
hg193460
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627613
Supporting Variants
SamplesHG01985
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14268510
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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