A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569733



Internal ID18351245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:144100146..144137611hg38UCSC Ensembl
Innerchr4:145021299..145058764hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3837466
hg1937466
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9772714
Samples401177SL
Known GenesGYPA
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)esv3569733
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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