A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787966



Internal ID18829998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133443258..133563944hg38UCSC Ensembl
Innerchr10:135256762..135377448hg19UCSC Ensembl
Innerchr10:135106752..135227438hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38120687
hg19120687
hg18120687
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891902
Supporting Variants
Samples
Known GenesCYP2E1, SCART1, SYCE1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=85
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787966
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