A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv199e212



Internal ID22783126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:27295517..27420469hg38UCSC Ensembl
chr10:27584446..27709398hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38124953
hg19124953
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578740, esv3578741, esv3578742, esv3578739
Samples401769CR, 401566DD, 400838AM, 400082SD, 401203MP
Known GenesPTCHD3
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)dgv199e212
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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