A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788898



Internal ID19170000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:129377402..129453995hg38UCSC Ensembl
Innerchr4:130298557..130375150hg19UCSC Ensembl
Innerchr4:130518007..130594600hg18UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg3876594
hg1976594
hg1876594
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894028
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=15
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788898
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