A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893246



Internal ID18837380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54081109..54111207hg38UCSC Ensembl
Outerchr19:54081109..54111207hg38UCSC Ensembl
Innerchr19:54584378..54614590hg19UCSC Ensembl
Outerchr19:54584378..54614590hg19UCSC Ensembl
Innerchr19:59276190..59306402hg18UCSC Ensembl
Outerchr19:59276190..59306402hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3830099
hg1930213
hg1830213
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788096
Samples
Known GenesNDUFA3, OSCAR, TARM1, TFPT
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893246
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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