A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302791



Internal ID15149739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:90483741..90483903hg38UCSC Ensembl
Innerchr14:90483822..90483822hg38UCSC Ensembl
Outerchr14:90483641..90484003hg38UCSC Ensembl
chr14:90950085..90950247hg19UCSC Ensembl
Innerchr14:90950166..90950166hg19UCSC Ensembl
Outerchr14:90949985..90950347hg19UCSC Ensembl
chr14:90019838..90020000hg18UCSC Ensembl
Innerchr14:90019919..90019919hg18UCSC Ensembl
Outerchr14:90019738..90020100hg18UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38163
hg19163
hg18163
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731875
SamplesNA18965
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302791
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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