A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1249e212



Internal ID22784176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51775507..51779814hg38UCSC Ensembl
chr20:50392046..50396353hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg384308
hg194308
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568013, esv3568012, esv3568011, esv3568008
Samples400094RS, 401899MB, 400620MT, 401538NS, 401714BM, 401432SB, 400768MN, 401981GF, 401608GE, 400586RD, 400833BB, 401932GN
Known Genes
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)dgv1249e212
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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