A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582915



Internal ID18364427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103566719..103760713hg38UCSC Ensembl
Innerchr1:104109341..104303335hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38193995
hg19193995
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv68e212
Supporting Variantsessv9778156, essv9778145, essv9778167, essv9778134
Samples400094RS, 400006DK, 400158FB, 400501SJ
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3582915
Frequency
Sample Size873
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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