A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9783903



Internal ID18286022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:56000465..56087692hg38UCSC Ensembl
Innerchr7:56068158..56155385hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3887228
hg1987228
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576357
Supporting Variants
Samples400207HN
Known GenesCCT6A, PHKG1, PSPH, SNORA15, SUMF2
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
CommentsNumber of probes=60
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9783903
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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