A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577667



Internal ID18705865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1464822..1493771hg38UCSC Ensembl
Innerchr1:1400202..1429151hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3828950
hg1928950
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1e212
Supporting Variantsessv9775532, essv9774421, essv9776643, essv9773310
Samples401769CR, 401432SB, 401513KC, 401314MK
Known GenesATAD3B, ATAD3C
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)esv3577667
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