A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1486e212



Internal ID22784413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:60826744..60858851hg38UCSC Ensembl
chr4:61692462..61724569hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3832108
hg1932108
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3569448, esv3569447
Samples401359HF, 401246HH
Known Genes
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)dgv1486e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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