A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv352e212



Internal ID22783279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:49992206..50637296hg38UCSC Ensembl
chr11:50013744..50596467hg19UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38645091
hg19582724
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578749, esv3578771, esv3578727, esv3578738, esv3578716, esv3578760
Samples400359OR, 401384BP, 401419SW, 401346FJ, 400518MS, 400801HS
Known GenesLOC441601, LOC646813
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)dgv352e212
Frequency
Sample Size873
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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