A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv894e212



Internal ID22783821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17722202..17734682hg38UCSC Ensembl
chr17:17625516..17637996hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3812481
hg1912481
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582556, esv3582557
Samples400429YF, 401377MA, 401594MP, 400093BL, 401348RB, 401958MF, 401661HD, 400315DA, 402042BJ, 400266BA
Known GenesRAI1
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)dgv894e212
Frequency
Sample Size873
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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