A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577759



Internal ID18359271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:19324106..19361938hg38UCSC Ensembl
Innerchr1:19650600..19688432hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3837833
hg1937833
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv21e212
Supporting Variantsessv9804088
Samples401054VM
Known GenesCAPZB, PQLC2
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)esv3577759
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