Variant DetailsVariant: esv3568536 | Internal ID | 18350048 | | Landmark | | | Location Information | | | Cytoband | 3p26.3 | | Allele length | | Assembly | Allele length | | hg38 | 3033 | | hg19 | 3033 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1348e212 | | Supporting Variants | essv9837235, essv9837246, essv9837270, essv9837240, essv9837272, essv9837252, essv9837273, essv9837253, essv9837244, essv9837250, essv9837255, essv9837245, essv9837238, essv9837268, essv9837267, essv9837236, essv9837241, essv9837263, essv9837261, essv9837242, essv9837249, essv9837260, essv9837278, essv9837276, essv9837259, essv9837275, essv9837237, essv9837247, essv9837257, essv9837248, essv9837239, essv9837269, essv9837256, essv9837251, essv9837258, essv9837264, essv9837274, essv9837262 | | Samples | 400359OR, 400424LN, 400534ME, 401146US, 400132HN, 400101EH, 400626FC, 401603HH, 400897MD, 400797ST, 400493KH, 400241CP, 400627CC, 400307HW, 401831TW, 401133JG, 400186WC, 401085LA, 401804FG, 400082SD, 400265LK, 400123WN, 400724CD, 400050RL, 401952UH, 402054BD, 400603CJ, 401778CB, 400136DM, 400671PP, 401203MP, 400458LS, 400881GS, 401135CS, 400792RE, 400108BJ, 400266BA, 400255CD | | Known Genes | CHL1 | | 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) | esv3568536
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 38 | | Observed Complex | 0 | | Frequency | n/a |
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