A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3572617

Internal ID18354129
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18994017..19008717hg38UCSC Ensembl
Innerchr8:18851527..18866227hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2059e212
Supporting Variantsessv9787548, essv9787543, essv9787545, essv9787547, essv9787542, essv9787549, essv9787546, essv9787551, essv9787550, essv9787552
Samples401804FG, 401136LB, 400371GA, 400730SH, 400242TP, 401056TJ, 401207DA, 400594VJ, 401153HS, 400570RW
Known GenesPSD3
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
Pubmed ID25503493
Accession Number(s)esv3572617
Sample Size873
Observed Gain0
Observed Loss10
Observed Complex0

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