A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9806632



Internal ID18285691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225873958..225886396hg38UCSC Ensembl
Innerchr1:226061658..226074096hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3812439
hg1912439
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3578457
Supporting Variants
Samples400203NA
Known GenesLEFTY1, TMEM63A
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
CommentsNumber of probes=12
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9806632
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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