A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583789



Internal ID18711987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:48513627..48539933hg38UCSC Ensembl
Innerchr2:48740766..48767072hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3826307
hg1926307
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1120e212
Supporting Variantsessv9823411
Samples400234CA
Known GenesPPP1R21, STON1, STON1-GTF2A1L
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)esv3583789
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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