Variant DetailsVariant: esv3571223 | Internal ID | 18699421 | | Landmark | | | Location Information | | | Cytoband | 6q14.1 | | Allele length | | Assembly | Allele length | | hg38 | 29586 | | hg19 | 29586 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1805e212 | | Supporting Variants | essv9780554, essv9780520, essv9780479, essv9780457, essv9780521, essv9780515, essv9780481, essv9780497, essv9780490, essv9780463, essv9780531, essv9780475, essv9780557, essv9780473, essv9780543, essv9780517, essv9780537, essv9780565, essv9780540, essv9780524, essv9780508, essv9780535, essv9780525, essv9780516, essv9780559, essv9780555, essv9780509, essv9780494, essv9780462, essv9780563, essv9780558, essv9780523, essv9780486, essv9780519, essv9780502, essv9780549, essv9780449, essv9780498, essv9780553, essv9780539, essv9780526, essv9780458, essv9780550, essv9780541, essv9780548, essv9780464, essv9780492, essv9780461, essv9780493, essv9780577, essv9780448, essv9780491, essv9780506, essv9780510, essv9780575, essv9780552, essv9780529, essv9780482, essv9780459, essv9780488, essv9780483, essv9780566, essv9780503, essv9780538, essv9780496, essv9780546, essv9780466, essv9780574, essv9780551, essv9780527, essv9780471, essv9780468, essv9780505, essv9780476, essv9780528, essv9780542, essv9780582, essv9780581, essv9780564, essv9780501, essv9780580, essv9780571, essv9780562, essv9780465, essv9780504, essv9780451, essv9780514, essv9780454, essv9780512, essv9780477, essv9780532, essv9780507, essv9780450, essv9780495, essv9780561, essv9780536, essv9780513, essv9780480, essv9780499, essv9780487, essv9780453, essv9780572, essv9780474, essv9780460, essv9780573, essv9780547, essv9780530, essv9780484, essv9780544, essv9780518, essv9780569, essv9780455, essv9780470 | | Samples | 400316SL, 401806DL, 400984LD, 400987FB, 400619MP, 400594VJ, 400094RS, 400876OG, 401235IA, 400294HD, 400906BR, 400683EC, 401079HJ, 400995MS, 400068PW, 401719RL, 400655WB, 401093VL, 401820SD, 401434VN, 401857VG, 401426WD, 400948EV, 400425SL, 401582GG, 401500OM, 400155CW, 401064FR, 400298ME, 400669LD, 401808PS, 401695BT, 400773GS, 400148MS, 400022WA, 401538NS, 401766MR, 401596PJ, 402056KD, 400582WS, 401620BA, 401192MJ, 400843FL, 400763BT, 400352CA, 401725MR, 400007RG, 401331LJ, 400416KA, 400533BB, 400791GC, 401477ST, 401432SB, 401357MH, 401278DM, 401519SA, 401968HL, 400829MR, 401563TK, 401419SW, 401771OS, 400123WN, 401506LK, 401346FJ, 400686BM, 400171BJ, 401262RR, 401067BD, 401981GF, 400278PD, 402074RR, 401587RC, 401702GB, 401200BD, 400999HR, 400450FG, 400695PH, 400518MS, 400430KV, 401677MM, 401616WP, 400201PK, 401391PJ, 401898DS, 400770MA, 400158FB, 401365DJ, 400156WT, 401844ZD, 400376SJ, 401693RC, 401054VM, 400501SJ, 401786WD, 401661HD, 401438HT, 401149VA, 400312CR, 401567BD, 401143LK, 400811SK, 402073LQ, 401372RR, 401829FJ, 401354KM, 401735LE, 402042BJ, 401628GC, 401932GN, 400164SS, 400243CK, 401993HM, 400704LC | | 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) | esv3571223
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 113 | | Observed Complex | 0 | | Frequency | n/a |
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