Variant DetailsVariant: dgv2071e212 Internal ID | 20150527 | Landmark | | Location Information | | Cytoband | 8p11.21 | Allele length | Assembly | Allele length | hg38 | 1935 | hg19 | 1935 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | esv3572712, esv3572714, esv3572715 | Samples | 401191MI, 400316SL, 400247CL, 400908PJ, 400984LD, 401852SK, 400268SY, 400789KV, 401330RR, 400866RR, 401079HJ, 401302LJ, 400068PW, 401093VL, 401603HH, 401468RL, 400545EW, 401551MB, 401990PR, 401263HS, 401687LR, 401780BB, 401935TM, 400203NA, 401364NA, 401155ML, 401038LN, 401855RE, 400002HK, 400929MM, 400763BT, 401714BM, 401027KW, 400870KC, 401091HS, 401617KM, 400702PA, 401623SN, 400207HN, 400064WJ, 400768MN, 401717LP, 401119DK, 401822TL, 400994HJ, 401475MK, 401506LK, 401504RJ, 400006DK, 401812HG, 401580CA, 400520FM, 401259LS, 401359HF, 400430KV, 400201PK, 401844ZD, 400410CD, 400930MK, 400811SK, 400719TM, 401763SG, 400177SJ, 400130HA, 401154BR, 401554VN, 401993HM, 400255CD, 400152MR | Known Genes | ANK1 | 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) | dgv2071e212
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 69 | Observed Complex | 0 | Frequency | n/a |
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