A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv973e212



Internal ID20149429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:10911877..10922069hg38UCSC Ensembl
chr18:10911875..10922067hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3810193
hg1910193
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582968, esv3582969, esv3582970
Samples400168HC, 401873BK, 401368WR, 400668TD
Known GenesPIEZO2
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)dgv973e212
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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