A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1782e212



Internal ID19008990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57444898..60776243hg38UCSC Ensembl
chr6:57309696..57743990hg19UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg383331346
hg19434295
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3576164, esv3576165
Samples400053LE, 400542EG
Known GenesPRIM2
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)dgv1782e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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