A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576497



Internal ID18358009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:158778556..159091127hg38UCSC Ensembl
Innerchr7:158571247..158883818hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38312572
hg19312572
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9786629
Samples400625FT
Known GenesESYT2, LINC00689, VIPR2, WDR60
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)esv3576497
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