A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14223527



Internal ID6399192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:87168333..87188218hg38UCSC Ensembl
Innerchr11:87168333..87188218hg38UCSC Ensembl
Outerchr11:87167833..87188718hg38UCSC Ensembl
chr11:86879375..86899260hg19UCSC Ensembl
Innerchr11:86879375..86899260hg19UCSC Ensembl
Outerchr11:86878875..86899760hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3819886
hg1919886
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627115
Supporting Variants
SamplesNA20346
Known GenesTMEM135
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14223527
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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