A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv911e212



Internal ID20149367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37883431..38262526hg38UCSC Ensembl
chr17:36243051..36418529hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38379096
hg19175479
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3572842, esv3572898, esv3572931, esv3572875, esv3572942, esv3572886, esv3572953, esv3572964
Samples401799DP, 401474CE, 400424LN, 400987FB, 400114GR, 401819BS, 401235IA, 400140WM, 400948EV, 400545EW, 402019MC, 400148MS, 401252AE, 400070PC, 401617KM, 401771OS, 400430KV, 401836SI, 400291VJ, 401993HM
Known GenesLOC440434, TBC1D3, TBC1D3C, TBC1D3F, TBC1D3H, YWHAEP7
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)dgv911e212
Frequency
Sample Size873
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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