A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9813354



Internal ID18332932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41039612..41066554hg38UCSC Ensembl
Innerchr17:39195864..39222806hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3826943
hg1926943
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3582642
Supporting Variants
Samples401571SD
Known GenesKRTAP1-1, KRTAP2-1, KRTAP2-2, KRTAP2-3, KRTAP2-4
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=28
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9813354
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