A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv68e212



Internal ID20148524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103560182..103764609hg38UCSC Ensembl
chr1:104102804..104307231hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38204428
hg19204428
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3583137, esv3582804, esv3583471, esv3582915, esv3583248
Samples400094RS, 401067BD, 400501SJ, 400837HN, 400553PP, 401725MR, 401117NA, 400006DK, 400158FB
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)dgv68e212
Frequency
Sample Size873
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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