A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584369



Internal ID18365881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232376920..232415079hg38UCSC Ensembl
Innerchr2:233241630..233279789hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3838160
hg1938160
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1218e212
Supporting Variantsessv9837085
Samples401406KF
Known GenesALPP, ALPPL2, ECEL1P2
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)esv3584369
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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