A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14292701



Internal ID5919279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117417659..117420404hg38UCSC Ensembl
Innerchr11:117417669..117420395hg38UCSC Ensembl
Outerchr11:117417650..117420414hg38UCSC Ensembl
chr11:117288375..117291120hg19UCSC Ensembl
Innerchr11:117288385..117291111hg19UCSC Ensembl
Outerchr11:117288366..117291130hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg382746
hg192746
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627854
Supporting Variants
SamplesNA19328
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14292701
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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