A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9808323



Internal ID18313385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:33564570..35080307hg38UCSC Ensembl
Innerchr15:33856771..35372508hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg381515738
hg191515738
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3569431
Supporting Variants
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
CommentsNumber of probes=1556
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9808323
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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