A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv143e212



Internal ID19007351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209621957..209625674hg38UCSC Ensembl
chr1:209795302..209799019hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg383718
hg193718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578401, esv3578402
Samples400654YW, 400773GS, 401477ST, 400243CK
Known GenesLAMB3, MIR4260
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)dgv143e212
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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