A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568528



Internal ID18350040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129115..138468hg38UCSC Ensembl
Innerchr3:170798..180151hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg389354
hg199354
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9837178, essv9837180, essv9837175, essv9837176, essv9837179
Samples400906BR, 402065BG, 401785MJ, 401763SG, 402024BB
Known Genes
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3568528
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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