A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788784



Internal ID19168220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:130748776..130936893hg38UCSC Ensembl
Innerchr5:130084469..130272586hg19UCSC Ensembl
Innerchr5:130112368..130300485hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38188118
hg19188118
hg18188118
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890739
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=39
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788784
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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