A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790712



Internal ID19160074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68567230..68678520hg38UCSC Ensembl
Innerchr4:69432948..69544238hg19UCSC Ensembl
Innerchr4:69115543..69226833hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38111291
hg19111291
hg18111291
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893946
Supporting Variants
Samples
Known GenesUGT2B15, UGT2B17
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=34
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790712
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