A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569571



Internal ID18351083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86677899..86679224hg38UCSC Ensembl
Innerchr4:87599052..87600377hg19UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg381326
hg191326
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9772037, essv9772038, essv9772039
Samples402067KS, 400061DE, 401482CB
Known GenesPTPN13
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)esv3569571
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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