A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14293145



Internal ID373922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117933525..117939442hg38UCSC Ensembl
Innerchr11:117933534..117939433hg38UCSC Ensembl
Outerchr11:117933516..117939451hg38UCSC Ensembl
chr11:117804240..117810157hg19UCSC Ensembl
Innerchr11:117804249..117810148hg19UCSC Ensembl
Outerchr11:117804231..117810166hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg385918
hg195918
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627862
Supporting Variants
SamplesHG00108
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14293145
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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