| Internal ID | 8311768 |
| Landmark | |
| Location Information | |
| Cytoband | 15q11.2 |
| Allele length | | Assembly | Allele length | | hg38 | 317 | | hg19 | 317 | | hg18 | 317 |
|
| Variant Type | CNV deletion |
| Copy Number | |
| Allele State | |
| Allele Origin | |
| Probe Count | |
| Validation Flag | |
| Merged Status | S |
| Merged Variants | esv2598663 |
| Supporting Variants | |
| Samples | NA18507 |
| Known Genes | SNRPN |
| Method | Sequencing |
| Analysis | The small_indels files contain insertions and deletions detected using the AB Small indel tool. After individual sequence tags from fragment and 2x25 mate pair data are matched to the reference, insertion of up to 3 bases and deletions of up to 11 bases are reported. Somewhat larger indels (12-500 bp) can be detected in the 2x50 mate pair data and these are included as well (Yoruban_med_ins_04_14.gff, Yoruban_med_ins_15_19.gff, Yoruban_med_del_12_500.gff). Small and medium indel files include a number of name=value attributes as described in the small indel tool manual. |
| Platform | Not specified |
| Comments | originalFile=Yoruban_med_del_12_500.gff |
| Reference | McKernan_et_al_2009 |
| Pubmed ID | 19546169 |
| Accession Number(s) | essv5220033
|
| Frequency | | Sample Size | 1 | | Observed Gain | 0 | | Observed Loss | 1 | | Observed Complex | 0 | | Frequency | n/a |
|
