A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571049



Internal ID18699247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:49960403..49970935hg38UCSC Ensembl
Innerchr6:49928116..49938648hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3810533
hg1910533
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1771e212
Supporting Variantsessv9779291, essv9779288, essv9779286, essv9779293, essv9779290, essv9779287, essv9779292
Samples401706BJ, 400439IM, 401899MB, 400948EV, 401297KC, 400337HG, 401732HW
Known GenesDEFB113, DEFB114
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)esv3571049
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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