A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6e212



Internal ID20148462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3086912..3104831hg38UCSC Ensembl
chr1:3003476..3021395hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3817920
hg1917920
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577703, esv3577702
Samples401733CG, 400793BR, 40031BA, 400523GB, 401459HF, 400241CP, 400439IM, 401390DG, 400836LK, 401025SM
Known GenesPRDM16
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)dgv6e212
Frequency
Sample Size873
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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