A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13992146



Internal ID5699692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:856965..861642hg38UCSC Ensembl
Innerchr11:856975..861632hg38UCSC Ensembl
Outerchr11:856955..861652hg38UCSC Ensembl
chr11:856965..861642hg19UCSC Ensembl
Innerchr11:856975..861632hg19UCSC Ensembl
Outerchr11:856955..861652hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg384678
hg194678
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625084
Supporting Variants
SamplesNA19089
Known GenesTSPAN4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13992146
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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