Variant DetailsVariant: esv3584361 | Internal ID | 18712559 | | Landmark | | | Location Information | | | Cytoband | 2q36.1 | | Allele length | | Assembly | Allele length | | hg38 | 11422 | | hg19 | 11422 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1216e212 | | Supporting Variants | essv9836942, essv9836986, essv9836963, essv9836984, essv9836959, essv9836954, essv9836970, essv9836965, essv9836949, essv9836991, essv9836995, essv9836953, essv9836979, essv9836951, essv9836950, essv9836945, essv9836941, essv9837001, essv9836974, essv9837004, essv9836972, essv9836969, essv9836989, essv9836971, essv9836961, essv9836948, essv9836998, essv9836982, essv9836967, essv9836983, essv9836952, essv9836976, essv9837008, essv9836994, essv9836978, essv9836960, essv9836958, essv9836993, essv9836946, essv9836962, essv9837000, essv9836985, essv9836940, essv9836947, essv9837002, essv9836997, essv9836973, essv9836943, essv9836957, essv9836996, essv9836964, essv9837006, essv9836992, essv9836968, essv9836981, essv9836975, essv9836987, essv9836980, essv9836956, essv9837003, essv9837005, essv9837007, essv9836990 | | Samples | 400308SP, 401110GJ, 400439IM, 400622SJ, 400970VE, 401079HJ, 401302LJ, 401151RJ, 401195PN, 401556KR, 400486LS, 401906DT, 401975VD, 400627CC, 400022WA, 400320RN, 400348DK, 401495NR, 401855RE, 400478WE, 400333CC, 401746WW, 401801LA, 400270BD, 400198MD, 400060MC, 401192MJ, 401376RD, 400302HW, 401397WN, 401691HA, 402033WD, 401125LM, 400914ER, 400381CA, 401017SC, 400639RP, 401702GB, 401200BD, 401307VR, 400450FG, 40050SB, 400329HJ, 400274TL, 400451kh, 400454RE, 400542EG, 400158FB, 400246MG, 401881TJ, 400971MK, 402008MC, 401143LK, 401809FU, 400811SK, 400271SR, 401543DC, 401829FJ, 401836SI, 401576WC, 400152MR, 400091BS, 401102RD | | Known Genes | | | 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) | esv3584361
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 63 | | Observed Complex | 0 | | Frequency | n/a |
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