Variant DetailsVariant: esv26223 | Internal ID | 11043456 | | Landmark | | | Location Information | | | Cytoband | 17q25.3 | | Allele length | | Assembly | Allele length | | hg38 | 1077447 | | hg19 | 1070677 | | hg18 | 1066487 |
| | Variant Type | CNV gain+loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | esv15794, esv17782, esv14185, esv10808, esv10870, esv16043, esv11192, esv14954, esv18136, esv15510, esv11485, esv10582, esv20250, esv13590, esv20147 | | Samples | NA18502, NA11995, NA18508, NA12414, NA11931, NA12004, NA19190, NA18916, NA12287, NA12156, NA12044, NA12828, NA11993, NA12489, NA12878, NA18907, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19147, NA18517, NA19240, NA12749, NA18505, NA19129, NA12006, NA12776 | | Known Genes | AATK, AATK-AS1, ACTG1, ARL16, AZI1, BAHCC1, BAIAP2, BAIAP2-AS1, C17orf70, C17orf89, CCDC137, CHMP6, ENTHD2, FSCN2, HGS, LINC00482, LOC100130370, MIR1250, MIR3065, MIR3186, MIR338, MIR4740, MIR657, MIR6786, MRPL12, NPLOC4, OXLD1, PDE6G, RPTOR, SLC25A10, SLC38A10, TMEM105, TSPAN10 | | 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) | esv26223
| | Frequency | | Sample Size | 40 | | Observed Gain | 20 | | Observed Loss | 25 | | Observed Complex | 0 | | Frequency | n/a |
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