A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891390



Internal ID19185786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:48062056..48102977hg38UCSC Ensembl
Outerchr8:48062056..48106230hg38UCSC Ensembl
Innerchr8:48974616..49015537hg19UCSC Ensembl
Outerchr8:48974616..49018790hg19UCSC Ensembl
Innerchr8:49137169..49178090hg18UCSC Ensembl
Outerchr8:49137169..49181343hg18UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3844175
hg1944175
hg1844175
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788600, essv25788771, essv25788660, essv25788364, essv25789202, essv25788468, essv25789273, essv25788910, essv25789282, essv25788989, essv25792783
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891390
Frequency
Sample Size3017
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer