A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570120



Internal ID18698318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148931390..148988043hg38UCSC Ensembl
Innerchr1:144896431..144953099hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3856654
hg1956669
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv90e212
Supporting Variantsessv9787077
Samples401922MW
Known GenesLOC100288142, NBPF9, PDE4DIP
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)esv3570120
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