A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576315



Internal ID18357827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:38255382..38351751hg38UCSC Ensembl
Innerchr7:38294983..38391352hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3896370
hg1996370
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1888e212
Supporting Variantsessv9783383, essv9783384
Samples400817MB, 401262RR
Known GenesTARP, TRG-AS1
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)esv3576315
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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