A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1390e212



Internal ID22784317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:89337784..89370758hg38UCSC Ensembl
chr3:89386934..89419908hg19UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg3832975
hg1932975
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568907, esv3568900, esv3568906, esv3568903, esv3568905, esv3568904
Samples400911GA, 400453LN, 401630MK, 401391PJ, 401149VA, 400792RE, 400525MR
Known GenesEPHA3
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)dgv1390e212
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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