A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576314



Internal ID18357826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:38255382..38331191hg38UCSC Ensembl
Innerchr7:38294983..38370792hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3875810
hg1975810
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1888e212
Supporting Variantsessv9783371, essv9783374, essv9783370
Samples400911GA, 401734PG, 400298ME
Known GenesTARP
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)esv3576314
Frequency
Sample Size873
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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