A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788088



Internal ID19162031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:124910059..125145549hg38UCSC Ensembl
Innerchr4:125831214..126066704hg19UCSC Ensembl
Innerchr4:126050664..126286154hg18UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38235491
hg19235491
hg18235491
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894025
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=50
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788088
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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