A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1377e212



Internal ID22784304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56997788..57006482hg38UCSC Ensembl
chr3:57031816..57040510hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg388695
hg198695
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3575574, esv3575573, esv3575572
Samples401468RL, 402029KJ, 400974PS, 400702PA, 401125LM, 401119DK, 401586RS, 401981GF, 401369GR, 401112LG, 400458LS, 401661HD, 400300SD, 401207DA
Known GenesARHGEF3
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)dgv1377e212
Frequency
Sample Size873
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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