Variant DetailsVariant: dgv1508e212 Internal ID | 20149964 | Landmark | | Location Information | | Cytoband | 4q21.3 | Allele length | Assembly | Allele length | hg38 | 3996 | hg19 | 3996 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3569561, esv3569563, esv3569560, esv3569557, esv3569558, esv3569562, esv3569566, esv3569559 | Samples | 400424LN, 400618GC, 401074CM, 401911FL, 401299ST, 400083TG, 401183HP, 400506GN, 401427CB, 401151RJ, 401856GC, 401582GG, 400658BW, 400528LR, 400882DD, 400032RC, 400206SC, 401393JW, 400270BD, 401013GJ, 400829MR, 400265LK, 400047DS, 400639RP, 400248JO, 402074RR, 400319HT, 400474GF, 400177CG, 400444MM, 401334DH, 401391PJ, 400103BN, 401287CF, 400863SS, 401438HT, 400205SP, 401543DC, 400130HA, 400013TA, 400266BA, 401932GN, 400150SS, 402024BB, 400890IT, 400243CK, 400782IE, 401497PR | Known Genes | MAPK10 | Method | SNP array | Analysis | We 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. | Platform | Affymetrix CytoScan HD 2.7M array | Comments | | Reference | Uddin_et_al_2014 | Pubmed ID | 25503493 | Accession Number(s) | dgv1508e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 48 | Observed Complex | 0 | Frequency | n/a |
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