A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv954e212



Internal ID19008162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:56788233..56795489hg38UCSC Ensembl
chr17:54865594..54872850hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg387257
hg197257
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582829, esv3582830
Samples400534ME, 4000046CJ, 400269DA, 400603CJ, 400579HJ, 400995MS, 400502GS, 401214BJ, 401859GS, 400570RW, 401054VM, 401832MC
Known GenesC17orf67
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)dgv954e212
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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