A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788106



Internal ID19161765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:58582153..58620147hg38UCSC Ensembl
Innerchr8:59494712..59532706hg19UCSC Ensembl
Innerchr8:59657266..59695260hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3837995
hg1937995
hg1837995
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891402
Supporting Variants
Samples
Known GenesNSMAF, SDCBP
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=15
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788106
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