A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580070



Internal ID18708268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2972462..2984666hg38UCSC Ensembl
Innerchr12:3081628..3093832hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3812205
hg1912205
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv440e212
Supporting Variantsessv9799689, essv9799691, essv9799690, essv9799687
Samples400768MN, 401968HL, 401318AV, 400371GA
Known GenesTEAD4
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)esv3580070
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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