A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570757



Internal ID18698955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:8378376..8381908hg38UCSC Ensembl
Innerchr6:8378609..8382141hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg383533
hg193533
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9778081, essv9778086, essv9778084, essv9778085, essv9778082, essv9778087, essv9778088, essv9778083
Samples400245SJ, 401746WW, 400507VD, 401630MK, 401414CR, 401391PJ, 400376SJ, 401395OP
Known Genes
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)esv3570757
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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