A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv229e212



Internal ID20148685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46216095..46317441hg38UCSC Ensembl
chr10:47587331..47688677hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38101347
hg19101347
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578855, esv3578798
Samples401841OB, 401026AM, 401021SC, 400325BE, 400836LK
Known GenesANTXRL, ANTXRLP1
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)dgv229e212
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer