A curated catalogue of human genomic structural variation

Variant Details

Variant: dgv524e212

Internal ID20148980
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123614065..123625575hg38UCSC Ensembl
chr12:124098612..124110122hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3580512, esv3580513
Samples401221LD, 400558BL, 400261RN, 401735LE, 401640WJ, 400643LD, 400454RE, 400255CD, 400837HN, 400540BM, 401519SA, 401308LD, 400603CJ, 401016IT, 401453OL, 401210PB, 400893ZE, 401303FM, 401468RL, 400352CA, 401993HM, 401714BM, 400059SV, 401844ZD, 400053LE, 401780BB, 401013GJ, 400581VJ, 401250WD, 400729HC, 401518VK, 401085LA, 401444LD, 401497PR, 401847RK, 400833BB, 401535RJ, 400209BS, 401402EN
Known GenesDDX55, EIF2B1
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
Pubmed ID25503493
Accession Number(s)dgv524e212
Sample Size873
Observed Gain0
Observed Loss39
Observed Complex0

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