A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1214e212



Internal ID22784141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214231084..214263722hg38UCSC Ensembl
chr2:215095808..215128446hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3832639
hg1932639
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3575330, esv3575331
Samples400378HL, 400454RE
Known GenesSPAG16
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)dgv1214e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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