A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1480e212



Internal ID22784407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:44963166..44997810hg38UCSC Ensembl
chr4:44965183..44999827hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3834645
hg1934645
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3575700, esv3575693, esv3575699
Samples401706BJ, 400145BL, 401845MJ, 401618HR, 400329HJ, 401100SJ, 401576WC
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)dgv1480e212
Frequency
Sample Size873
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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