A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790462



Internal ID19182262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68516362..68605407hg38UCSC Ensembl
Innerchr4:69382080..69471125hg19UCSC Ensembl
Innerchr4:69064675..69153720hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3889046
hg1989046
hg1889046
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893940
Supporting Variants
Samples
Known GenesUGT2B17
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=25
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790462
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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