A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584190



Internal ID18712388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:177971727..177985151hg38UCSC Ensembl
Innerchr2:178836454..178849878hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3813425
hg1913425
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9835983, essv9835981, essv9835982
Samples400227MM, 401762SD, 401135CS
Known GenesPDE11A
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)esv3584190
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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