A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv325e212



Internal ID20148781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:15147115..15150684hg38UCSC Ensembl
chr11:15168661..15172230hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg383570
hg193570
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3579379, esv3579378
Samples401852SK, 400866RR, 401841OB, 401766MR, 401359HF
Known GenesINSC
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)dgv325e212
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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