A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574297



Internal ID18355809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6890652..7103957hg38UCSC Ensembl
Innerchr19:6890663..7103968hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38213306
hg19213306
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9816546, essv9816545
Samples402029KJ, 401863BD
Known GenesEMR1, EMR4P, FLJ25758, MBD3L2, MBD3L3, MBD3L4, MBD3L5, ZNF557
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)esv3574297
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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