A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv424e212



Internal ID20148880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:131909775..131918138hg38UCSC Ensembl
chr11:131779669..131788032hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg388364
hg198364
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3579978, esv3579976, esv3579977, esv3579975
Samples400978JG, 400227MM, 400677HD, 400168HC, 401380OL, 401836SI, 401783BD, 401386WA, 400383HL, 401152MV, 400103BN, 401862AN
Known GenesNTM
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)dgv424e212
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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