A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9778201



Internal ID18298723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103566719..103764609hg38UCSC Ensembl
Innerchr1:104109341..104307231hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38197891
hg19197891
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3583471
Supporting Variants
Samples400553PP
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B
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=22
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9778201
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