A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv538e212



Internal ID20148994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:27922749..27955049hg38UCSC Ensembl
chr13:28496886..28529186hg19UCSC Ensembl
Cytoband13q12.2
Allele length
AssemblyAllele length
hg3832301
hg1932301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582272, esv3582283, esv3582261
Samples401077VC, 400361HC, 400518MS
Known GenesATP5EP2, PDX1
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)dgv538e212
Frequency
Sample Size873
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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