A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1141e212



Internal ID22784068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86893766..87082698hg38UCSC Ensembl
chr2:87120889..87309821hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38188933
hg19188933
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3583917, esv3583918
Samples401518VK, 400650RM, 400818BL
Known GenesANAPC1P1, LOC285074, PLGLB1, PLGLB2, RGPD1, RGPD2
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)dgv1141e212
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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