A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582681



Internal ID18710879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45509031..45577965hg38UCSC Ensembl
Innerchr17:43586397..43655331hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3868935
hg1968935
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv927e212
Supporting Variantsessv9814002, essv9813994, essv9813996, essv9814006, essv9813999, essv9814008, essv9813995, essv9813998, essv9814001, essv9814003, essv9814004, essv9813997, essv9814005, essv9814007
Samples400308SP, 400625FT, 400148MS, 400783MJ, 401853WR, 401859GS, 400681MC, 402001SR, 400135DR, 400677HD, 400266BA, 401836SI, 401993HM, 400138LA
Known GenesLRRC37A4P
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)esv3582681
Frequency
Sample Size873
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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