A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581800



Internal ID18709998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:86378833..86392965hg38UCSC Ensembl
Innerchr15:86922064..86936196hg19UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg3814133
hg1914133
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv755e212
Supporting Variantsessv9809326, essv9809328, essv9809329, essv9809330, essv9809332, essv9809331, essv9809327
Samples401636WR, 400618GC, 401856GC, 400110MD, 400571WV, 400178RH, 401102RD
Known GenesAGBL1
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)esv3581800
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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