A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581226



Internal ID18709424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:64552810..64561410hg38UCSC Ensembl
Innerchr14:65019528..65028128hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg388601
hg198601
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9805899, essv9805901
Samples400093BL, 400082SD
Known GenesPPP1R36
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)esv3581226
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