A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv447e212



Internal ID20148903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5987747..5992371hg38UCSC Ensembl
chr12:6096913..6101537hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg384625
hg194625
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3580086, esv3580093
Samples401956DQ, 400068PW, 400838AM, 402074RR, 400494ML, 400982BS
Known GenesVWF
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)dgv447e212
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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