A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9770599



Internal ID18294784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39922679..40113190hg38UCSC Ensembl
Innerchr4:39924299..40114810hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38190512
hg19190512
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575688
Supporting Variants
Samples400444MM
Known GenesLOC344967, N4BP2, PDS5A
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=156
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9770599
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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