Variant DetailsVariant: esv3568924 | Internal ID | 18697122 | | Landmark | | | Location Information | | | Cytoband | 3q11.2 | | Allele length | | Assembly | Allele length | | hg38 | 24898 | | hg19 | 24898 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv9767576, essv9767512, essv9767519, essv9767530, essv9767606, essv9767514, essv9767498, essv9767580, essv9767595, essv9767503, essv9767598, essv9767553, essv9767502, essv9767529, essv9767506, essv9767541, essv9767594, essv9767538, essv9767510, essv9767513, essv9767582, essv9767518, essv9767531, essv9767614, essv9767537, essv9767610, essv9767560, essv9767524, essv9767535, essv9767546, essv9767570, essv9767526, essv9767601, essv9767618, essv9767602, essv9767588, essv9767591, essv9767523, essv9767616, essv9767584, essv9767615, essv9767551, essv9767620, essv9767569, essv9767565, essv9767609, essv9767509, essv9767583, essv9767612, essv9767516, essv9767520, essv9767542, essv9767507, essv9767527, essv9767544, essv9767573, essv9767554, essv9767540, essv9767536, essv9767586, essv9767561, essv9767539, essv9767508, essv9767592, essv9767564, essv9767557, essv9767568, essv9767590, essv9767558, essv9767555, essv9767549, essv9767607, essv9767605, essv9767597, essv9767521, essv9767587, essv9767566, essv9767574, essv9767562, essv9767504, essv9767613, essv9767559, essv9767619, essv9767577, essv9767596, essv9767525, essv9767515, essv9767501, essv9767581, essv9767603, essv9767532, essv9767517, essv9767571, essv9767552, essv9767499, essv9767599, essv9767617, essv9767579, essv9767604, essv9767572, essv9767608, essv9767585, essv9767550, essv9767563, essv9767548, essv9767547, essv9767505, essv9767593, essv9767575, essv9767528, essv9767543 | | Samples | 400287BP, 400927BD, 400308SP, 400063BR, 400569WC, 400619MP, 400268SY, 401275SJ, 401956DQ, 400313DF, 401673DM, 400683EC, 401415CB, 402067KS, 401299ST, 400866RR, 401079HJ, 400995MS, 401841OB, 401183HP, 400655WB, 401457WK, 400730SH, 400629BM, 400325BE, 400077EB, 401603HH, 401368WR, 401402EN, 400453LN, 400558BL, 400528LR, 400893ZE, 400298ME, 400827MM, 400627CC, 401297KC, 402028BD, 400482MD, 401263HS, 401006ES, 401184MM, 400749VW, 400368SD, 400348DK, 400817MB, 401831TW, 401038LN, 400564SN, 401303FM, 401495NR, 401746WW, 401353BC, 400109LJ, 400002HK, 401377MA, 400793BR, 400282RA, 401785MJ, 400663MD, 401725MR, 400515ZG, 401714BM, 400738WM, 400236DB, 402033WD, 401477ST, 401853WR, 400829MR, 401563TK, 401513KC, 400844GP, 400681MC, 401311GL, 401414CR, 401889FR, 401875FG, 401011PJ, 400422PN, 400999HR, 400611GG, 400695PH, 401514BA, 401922MW, 400378HL, 400136DM, 400671PP, 401496SL, 400053LE, 400471YS, 400881GS, 401847RK, 401611CD, 402060PD, 401054VM, 400235MP, 401413RG, 401438HT, 400971MK, 400930MK, 400719TM, 400792RE, 401354KM, 400785AK, 401154BR, 400173KP, 400079AP, 401341TS, 401576WC, 401111LH, 400782IE | | 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) | esv3568924
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 111 | | Observed Complex | 0 | | Frequency | n/a |
|
|
