Variant DetailsVariant: esv3578900 | Internal ID | 18707098 | | Landmark | | | Location Information | | | Cytoband | 10q21.1 | | Allele length | | Assembly | Allele length | | hg38 | 2898 | | hg19 | 2898 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv239e212 | | Supporting Variants | essv9793635, essv9793642, essv9793640, essv9793643, essv9793655, essv9793646, essv9793639, essv9793666, essv9793671, essv9793673, essv9793654, essv9793672, essv9793674, essv9793669, essv9793670, essv9793664, essv9793665, essv9793651, essv9793637, essv9793661, essv9793638, essv9793668, essv9793657, essv9793652, essv9793636, essv9793658, essv9793650, essv9793653, essv9793663, essv9793660, essv9793649, essv9793647, essv9793641, essv9793662, essv9793648, essv9793659, essv9793634 | | Samples | 401474CE, 401162TM, 400880TM, 400917CG, 401498HH, 401321CE, 400083TG, 401603HH, 401536BD, 400953MR, 400558BL, 400486LS, 400882DD, 400503HD, 400134WK, 400526DR, 400109LJ, 401234MB, 401834CB, 400064WJ, 401586RS, 401084BD, 401504RJ, 400639RP, 400211BJ, 40050SB, 400135DR, 401176BD, 400788PV, 400136DM, 401958MF, 401288LD, 400501SJ, 401861GG, 400130HA, 400178RH, 401612HB | | 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) | esv3578900
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 37 | | Observed Complex | 0 | | Frequency | n/a |
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