A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1054e212



Internal ID20149510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45347119..45407663hg38UCSC Ensembl
chr19:45850377..45910921hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3860545
hg1960545
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3574541, esv3574552
Samples400155CW, 400542EG, 400156WT
Known GenesCD3EAP, ERCC1, ERCC2, KLC3, PPP1R13L
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)dgv1054e212
Frequency
Sample Size873
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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