A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14223512



Internal ID4225328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:87042717..87045535hg38UCSC Ensembl
Innerchr11:87042717..87045535hg38UCSC Ensembl
Outerchr11:87042453..87045783hg38UCSC Ensembl
chr11:86753759..86756577hg19UCSC Ensembl
Innerchr11:86753759..86756577hg19UCSC Ensembl
Outerchr11:86753495..86756825hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg382819
hg192819
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627113
Supporting Variants
SamplesHG02541
Known GenesTMEM135
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14223512
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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