A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789716



Internal ID19173187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:29497767..29574668hg38UCSC Ensembl
Innerchr5:29497874..29574775hg19UCSC Ensembl
Innerchr5:29533631..29610532hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3876902
hg1976902
hg1876902
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894166
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=38
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789716
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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