A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9813317



Internal ID18290683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37990446..38237539hg38UCSC Ensembl
Innerchr17:36350006..36393574hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38247094
hg1943569
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3573031
Supporting Variants
Samples400320RN
Known GenesLOC440434
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=15
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9813317
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