Variant DetailsVariant: esv15614 | Internal ID | 11032848 | | Landmark | | | Location Information | | | Cytoband | 7q22.1 | | Allele length | | Assembly | Allele length | | hg38 | 218499 | | hg19 | 218499 | | hg18 | 218730 |
| | Variant Type | CNV gain+loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | esv27624 | | Supporting Variants | essv79814, essv70868, essv84037, essv40365, essv50909, essv76653, essv65110, essv81485, essv45241, essv48376, essv78405, essv35892, essv59977, essv38559, essv54916, essv56017, essv61716, essv64831, essv58322, essv46990, essv49662, essv53402, essv72118, essv52069, essv80071, essv37607, essv68488, essv33240, essv41545, essv44092, essv62617, essv76015 | | Samples | NA11995, NA18861, NA18508, NA12414, NA11931, NA19190, NA18916, NA12489, NA12878, NA18907, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA18511, NA12776 | | Known Genes | LRWD1, POLR2J, POLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL | | Method | Oligo aCGH | | Analysis | Segment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls. | | Platform | Sanger H. Sapiens 42mCGH Array 5781_53 726K v1 | | Comments | | | Reference | Conrad_et_al_2009 | | Pubmed ID | 19812545 | | Accession Number(s) | esv15614
| | Frequency | | Sample Size | 40 | | Observed Gain | 31 | | Observed Loss | 1 | | Observed Complex | 0 | | Frequency | n/a |
|
|
