A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583697



Internal ID18711895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:29240597..29251777hg38UCSC Ensembl
Innerchr2:29463463..29474643hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3811181
hg1911181
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1107e212
Supporting Variantsessv9817022, essv9816911, essv9816922, essv9816933, essv9816989, essv9816966, essv9817011, essv9816955, essv9816978, essv9816944, essv9817000
Samples400287BP, 401734PG, 401911FL, 401672FD, 401346FJ, 400278PD, 401940SJ, 402009WP, 400295PS, 401215MJ, 401932GN
Known GenesALK
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)esv3583697
Frequency
Sample Size873
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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