A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15092040



Internal ID1736142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:86953455..87010451hg38UCSC Ensembl
Innerchr14:86953457..87010449hg38UCSC Ensembl
Outerchr14:86953453..87010453hg38UCSC Ensembl
chr14:87419799..87476795hg19UCSC Ensembl
Innerchr14:87419801..87476793hg19UCSC Ensembl
Outerchr14:87419797..87476797hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3856997
hg1956997
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635244
Supporting Variants
SamplesHG01607
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15092040
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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