A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1348e212



Internal ID20149804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:240738..244242hg38UCSC Ensembl
chr3:282421..285925hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg383505
hg193505
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568537, esv3568536, esv3568539, esv3568538, esv3568540
Samples400359OR, 400424LN, 400534ME, 401146US, 400132HN, 400101EH, 400626FC, 400970VE, 401603HH, 400897MD, 400797ST, 400493KH, 400241CP, 400627CC, 400307HW, 401831TW, 401133JG, 400186WC, 401085LA, 401804FG, 400082SD, 400265LK, 400123WN, 400724CD, 400050RL, 401952UH, 401075MN, 402054BD, 400603CJ, 401778CB, 400136DM, 400671PP, 401203MP, 400458LS, 400881GS, 401054VM, 401149VA, 401135CS, 400792RE, 400108BJ, 400266BA, 400942HR, 400255CD
Known GenesCHL1
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)dgv1348e212
Frequency
Sample Size873
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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