A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9816494



Internal ID18288107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:2096468..2114273hg38UCSC Ensembl
Innerchr19:2096467..2114272hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3817806
hg1917806
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3583205
Supporting Variants
Samples400255CD
Known GenesAP3D1, IZUMO4
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=8
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9816494
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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