A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv146e212



Internal ID20148602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:214464649..214471964hg38UCSC Ensembl
chr1:214637992..214645307hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg387316
hg197316
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578420, esv3578419, esv3578417
Samples401806DL, 400199SA, 401981GF, 401079HJ, 400453LN, 400442FE
Known GenesPTPN14
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)dgv146e212
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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