Variant DetailsVariant: esv3571823 | Internal ID | 18700021 | | Landmark | | | Location Information | | | Cytoband | 7p13 | | Allele length | | Assembly | Allele length | | hg38 | 10109 | | hg19 | 10109 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1905e212 | | Supporting Variants | essv9783566, essv9783584, essv9783564, essv9783555, essv9783562, essv9783569, essv9783591, essv9783568, essv9783570, essv9783557, essv9783587, essv9783579, essv9783586, essv9783554, essv9783558, essv9783576, essv9783577, essv9783580, essv9783572, essv9783574, essv9783571, essv9783582, essv9783561, essv9783560, essv9783581, essv9783593, essv9783573, essv9783585, essv9783575, essv9783588, essv9783559, essv9783565, essv9783563, essv9783590, essv9783583, essv9783592 | | Samples | 401033DJ, 400649PS, 401498HH, 400852WJ, 401719RL, 400834SS, 400425SL, 401500OM, 401551MB, 402062KR, 401869BG, 400231LP, 401832MC, 400292LP, 401664SD, 400270BD, 400064WJ, 401432SB, 400240HJ, 400960TN, 400914ER, 401864CV, 401730MS, 401513KC, 400047DS, 400854SG, 401795SP, 401259LS, 400274TL, 400295PS, 402008MC, 401154BR, 400508RD, 400150SS, 401111LH, 400982BS | | Known Genes | COA1 | | 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) | esv3571823
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 36 | | Observed Complex | 0 | | Frequency | n/a |
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