A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1019e212



Internal ID22783946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7205172..7219152hg38UCSC Ensembl
chr19:7205183..7219163hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3813981
hg1913981
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3583225, esv3583221, esv3583228
Samples400574MA, 401742KB, 401820SD, 400460DM, 400825TW, 402033WD, 400881GS, 400759FV, 400525MR
Known GenesINSR
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)dgv1019e212
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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