A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575120



Internal ID18356632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:57618090..57642937hg38UCSC Ensembl
Innerchr19:58129458..58154305hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3824848
hg1924848
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9818419
Samples400598DA
Known GenesZNF134, ZNF211
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)esv3575120
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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