A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14930211



Internal ID5572474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21558148..21568151hg38UCSC Ensembl
Innerchr14:21558298..21568001hg38UCSC Ensembl
Outerchr14:21557998..21568301hg38UCSC Ensembl
chr14:22026279..22036282hg19UCSC Ensembl
Innerchr14:22026429..22036132hg19UCSC Ensembl
Outerchr14:22026129..22036432hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3810004
hg1910004
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633721
Supporting Variants
SamplesNA19019
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14930211
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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