A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568704



Internal ID18350216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:39419564..39424954hg38UCSC Ensembl
Innerchr3:39461055..39466445hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg385391
hg195391
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1370e212
Supporting Variantsessv9766732, essv9766735, essv9766733, essv9766736, essv9766737, essv9766731, essv9766730
Samples400075MR, 401427CB, 401856GC, 400653GP, 400598DA, 400012CJ, 400238BB
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)esv3568704
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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