A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9769457



Internal ID18341405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68454..116744hg38UCSC Ensembl
Innerchr4:68346..116625hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3848291
hg1948280
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575652
Supporting Variants
Samples401838EN
Known GenesZNF595, ZNF718
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
CommentsNumber of probes=134
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9769457
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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