A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689111



Internal ID13698206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:18223524..18272773hg38UCSC Ensembl
Innerchr14:18224475..18271773hg38UCSC Ensembl
Outerchr14:18223524..18273773hg38UCSC Ensembl
chr14:19000001..19049250hg19UCSC Ensembl
Innerchr14:19000952..19048250hg19UCSC Ensembl
Outerchr14:19000001..19050250hg19UCSC Ensembl
chr14:18069952..18119250hg18UCSC Ensembl
Innerchr14:18070952..18118250hg18UCSC Ensembl
Outerchr14:18068952..18120250hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg3849250
hg1949250
hg1849299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3374078
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689111
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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