A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1661e212



Internal ID22784588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:156994435..156999652hg38UCSC Ensembl
chr5:156421446..156426663hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg385218
hg195218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3570516, esv3570515
Samples400059SV, 400453LN, 400738WM, 400207HN, 401358VP
Known Genes
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)dgv1661e212
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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