A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572629



Internal ID18700827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:22157247..22162384hg38UCSC Ensembl
Innerchr8:22014760..22019897hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg385138
hg195138
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2060e212
Supporting Variantsessv9787573, essv9787572, essv9787574, essv9787571, essv9787567, essv9787568, essv9787570, essv9787569
Samples401806DL, 401434VN, 402061PI, 401198TI, 401419SW, 400844GP, 400361HC, 401288LD
Known GenesSFTPC
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)esv3572629
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