A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25793096



Internal ID19182129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68516362..68637963hg38UCSC Ensembl
Innerchr4:69382080..69503681hg19UCSC Ensembl
Innerchr4:69064675..69186276hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38121602
hg19121602
hg18121602
Variant TypeCNV gain
Copy Number4
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=34
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25793096
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer