A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791868



Internal ID19179467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:34278321..34395767hg38UCSC Ensembl
Innerchr5:34278426..34395872hg19UCSC Ensembl
Innerchr5:34314183..34431629hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38117447
hg19117447
hg18117447
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894174
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=13
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791868
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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