A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv916e212



Internal ID20149372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37990446..38254553hg38UCSC Ensembl
chr17:36350006..36410559hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38264108
hg1960554
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582623, esv3582636, esv3582637
Samples401634CH, 401958MF, 400205SP, 400243CK, 400704LC
Known GenesLOC440434
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)dgv916e212
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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