A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569727



Internal ID18697925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:139309735..139318423hg38UCSC Ensembl
Innerchr4:140230889..140239577hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg388689
hg198689
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1532e212
Supporting Variantsessv9772694, essv9772697, essv9772693, essv9772696, essv9772698, essv9772695, essv9772699
Samples401986LC, 401146US, 401261HD, 40031BA, 400360SM, 400298ME, 400800MW
Known GenesNAA15
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)esv3569727
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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