A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581631



Internal ID18709829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34997677..35006903hg38UCSC Ensembl
Innerchr15:35289878..35299104hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg389227
hg199227
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9808353, essv9808357, essv9808354, essv9808356
Samples401582GG, 401308LD, 401620BA, 4000046CJ
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)esv3581631
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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