A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv448e212



Internal ID20148904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7280402..7344654hg38UCSC Ensembl
chr12:7432998..7497250hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3864253
hg1964253
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3580416, esv3580427
Samples400523GB, 400378HL
Known GenesACSM4
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)dgv448e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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