A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302665



Internal ID15149613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21581817..21590804hg38UCSC Ensembl
Innerchr14:21581917..21590704hg38UCSC Ensembl
Outerchr14:21581716..21590904hg38UCSC Ensembl
chr14:22049951..22058923hg19UCSC Ensembl
Innerchr14:22050051..22058823hg19UCSC Ensembl
Outerchr14:22049851..22059023hg19UCSC Ensembl
chr14:21119791..21128763hg18UCSC Ensembl
Innerchr14:21119891..21128663hg18UCSC Ensembl
Outerchr14:21119691..21128863hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg388988
hg198973
hg188973
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731665, essv7730893, essv7731224
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302665
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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