A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568623



Internal ID18696821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:13636550..13642237hg38UCSC Ensembl
Innerchr3:13678050..13683737hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg385688
hg195688
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1362e212
Supporting Variantsessv9837562, essv9837569, essv9837564, essv9837563, essv9837567, essv9837568, essv9837566, essv9837561
Samples401460LW, 400140WM, 401036WS, 401721CP, 401468RL, 401652HL, 401859GS, 400792RE
Known GenesFBLN2
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)esv3568623
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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