Variant DetailsVariant: esv3573680![](http://dgv.tcag.ca/gb2/gbrowse_img/dgv2_hg38/?name=chrX:24487194..24494380;width=800;overview=1) Internal ID | 18355192 | Landmark | | Location Information | | Cytoband | Xp22.11 | Allele length | Assembly | Allele length | hg38 | 7187 | hg19 | 7187 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | dgv2240e212 | Supporting Variants | essv9824413, essv9824395, essv9824400, essv9824384, essv9824391, essv9824371, essv9824367, essv9824381, essv9824385, essv9824403, essv9824376, essv9824369, essv9824361, essv9824409, essv9824398, essv9824372, essv9824390, essv9824383, essv9824375, essv9824374, essv9824412, essv9824386, essv9824393, essv9824411, essv9824408, essv9824404, essv9824363, essv9824405, essv9824380, essv9824360, essv9824387, essv9824394, essv9824406, essv9824379, essv9824407, essv9824362, essv9824396, essv9824378, essv9824397, essv9824392, essv9824389, essv9824364, essv9824370, essv9824402, essv9824373, essv9824368, essv9824365, essv9824401, essv9824382 | Samples | 400920MK, 400105BB, 401077VC, 400889CM, 400970VE, 400574MA, 401330RR, 401733CG, 401093VL, 401603HH, 400937OR, 400486LS, 400675HC, 400227MM, 400460DM, 401832MC, 400368SD, 400356MC, 401766MR, 400113LD, 400270BD, 401377MA, 400577MK, 400791GC, 401736BF, 401630MK, 401017SC, 401443JK, 400249BC, 400211BJ, 401067BD, 400978JG, 400869BK, 401919MD, 401587RC, 401702GB, 40050SB, 400474GF, 400881GS, 401881TJ, 400295PS, 400069CN, 401894PD, 401763SG, 401728WK, 401153HS, 400581VJ, 401341TS, 401576WC | Known Genes | PDK3 | 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) | esv3573680
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 49 | Observed Complex | 0 | Frequency | n/a |
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