A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787864



Internal ID18835684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:79366031..79425620hg38UCSC Ensembl
Innerchr5:78661854..78721443hg19UCSC Ensembl
Innerchr5:78697610..78757199hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3859590
hg1959590
hg1859590
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890659
Supporting Variants
Samples
Known GenesHOMER1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=13
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787864
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