A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7e212



Internal ID20148463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3223715..3236934hg38UCSC Ensembl
chr1:3140279..3153498hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3813220
hg1913220
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577706, esv3577707, esv3577704, esv3577708
Samples401021SC, 400574MA, 401183HP, 401551MB, 400893ZE, 402064DC, 400061DE, 401165SB, 400650RM, 400478WE, 401406KF, 401505WI, 400515ZG, 400076LC, 400361HC
Known GenesPRDM16
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)dgv7e212
Frequency
Sample Size873
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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