A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689479



Internal ID15019133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21581777..21590891hg38UCSC Ensembl
Innerchr14:21582779..21589891hg38UCSC Ensembl
Outerchr14:21580778..21591890hg38UCSC Ensembl
chr14:22049912..22059010hg19UCSC Ensembl
Innerchr14:22050912..22058010hg19UCSC Ensembl
Outerchr14:22048912..22060010hg19UCSC Ensembl
chr14:21119752..21128850hg18UCSC Ensembl
Innerchr14:21120752..21127850hg18UCSC Ensembl
Outerchr14:21118752..21129850hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg389115
hg199099
hg189099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3443599
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689479
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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