A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569431



Internal ID18350943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:33564570..35080307hg38UCSC Ensembl
Innerchr15:33856771..35372508hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg381515738
hg191515738
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9808323
Samples401005BL
Known GenesACTC1, AQR, AVEN, CHRM5, EMC4, EMC7, GJD2, GOLGA8A, GOLGA8B, KATNBL1, LPCAT4, MIR1233-1, MIR1233-2, NOP10, NUTM1, PGBD4, RYR3, SLC12A6, ZNF770
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)esv3569431
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