A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3575396

Internal ID18356908
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43549125..43554120hg38UCSC Ensembl
Innerchr21:44969006..44974001hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9820557, essv9820600, essv9820578, essv9820590, essv9820553, essv9820609
Samples401892MJ, 401735LE, 401357MH, 401377MA, 401856GC, 401608GE
Known GenesHSF2BP
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
Pubmed ID25503493
Accession Number(s)esv3575396
Sample Size873
Observed Gain6
Observed Loss0
Observed Complex0

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