Variant DetailsVariant: esv3570740 | Internal ID | 18698938 | | Landmark | | | Location Information | | | Cytoband | 6p25.1 | | Allele length | | Assembly | Allele length | | hg38 | 11184 | | hg19 | 11184 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv9778030, essv9778009, essv9778014, essv9778028, essv9778025, essv9778003, essv9778004, essv9778036, essv9778026, essv9778035, essv9778024, essv9778008, essv9777998, essv9778015, essv9778029, essv9778021, essv9777994, essv9778005, essv9778022, essv9778007, essv9778016, essv9778017, essv9778006, essv9778010, essv9777995, essv9778033, essv9778000, essv9777999, essv9778018, essv9778013, essv9777996, essv9777997, essv9778031, essv9778019, essv9778002, essv9778020, essv9778011, essv9778027, essv9778032 | | Samples | 400075MR, 401465TB, 400880TM, 401146US, 400132HN, 400626FC, 401460LW, 401074CM, 401415CB, 400956AM, 400425SL, 401190WC, 400441GS, 401926MR, 401165SB, 401550SP, 401801LA, 400002HK, 400383HL, 401591BE, 401853WR, 400093BL, 401084BD, 401311GL, 400854SG, 400639RP, 400258BC, 400354TJ, 400135DR, 401914PR, 401361GG, 400103BN, 400601WC, 400845ML, 400930MK, 401817MC, 401576WC, 401068SD, 400982BS | | 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) | esv3570740
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 39 | | Observed Complex | 0 | | Frequency | n/a |
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