A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789510



Internal ID18813728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197204950..197333165hg38UCSC Ensembl
Innerchr3:196931821..197060036hg19UCSC Ensembl
Innerchr3:198416218..198544433hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38128216
hg19128216
hg18128216
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893852
Supporting Variants
Samples
Known GenesDLG1, DLG1-AS1, MIR4797
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=21
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789510
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