A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv528e212



Internal ID20148984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128795042..128814506hg38UCSC Ensembl
chr12:129279587..129299051hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3819465
hg1919465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3580530, esv3580534
Samples400238BB, 401358VP, 400294HD, 401434VN, 401514BA, 400837HN, 401013GJ, 400722OM, 401939GD, 400650RM, 400012CJ, 401831TW, 400328LM, 400791GC, 400920MK, 401054VM
Known GenesSLC15A4
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)dgv528e212
Frequency
Sample Size873
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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