A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787758



Internal ID18814773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52581711..52665028hg38UCSC Ensembl
Innerchr8:53494271..53577588hg19UCSC Ensembl
Innerchr8:53656824..53740141hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3883318
hg1983318
hg1883318
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891396
Supporting Variants
Samples
Known GenesRB1CC1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=11
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787758
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