A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9813301



Internal ID18348042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37951464..38248548hg38UCSC Ensembl
Innerchr17:36311009..36404555hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38297085
hg1993547
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3582634
Supporting Variants
Samples402029KJ
Known GenesLOC440434, TBC1D3, TBC1D3C, TBC1D3F, TBC1D3H
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=26
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9813301
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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