A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788143



Internal ID19177359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:124910059..125138066hg38UCSC Ensembl
Innerchr4:125831214..126059221hg19UCSC Ensembl
Innerchr4:126050664..126278671hg18UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38228008
hg19228008
hg18228008
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=49
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788143
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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