A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569059



Internal ID18350571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:151795276..151830690hg38UCSC Ensembl
Innerchr3:151513064..151548478hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3835415
hg1935415
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1419e212
Supporting Variantsessv9768548, essv9768549, essv9768550
Samples400626FC, 401969DR, 400782IE
Known GenesAADAC, MIR548H2
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)esv3569059
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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