A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv36e212



Internal ID20148492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54619919..54630902hg38UCSC Ensembl
chr1:55085592..55096575hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3810984
hg1910984
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577869, esv3577868
Samples400929MM, 401986LC
Known GenesACOT11, FAM151A
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)dgv36e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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