esv33754
- Organism: Homo sapiens
- Study:estd24 (de Smith et al. 2007)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:767,314
- Publication(s):de Smith et al. 2007
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2285 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 2286 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 193 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv33754 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 4,105,333 | 4,872,646 |
| esv33754 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 4,023,374 | 4,790,687 |
| esv33754 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000023.8 | ChrX | 3,883,110 | 4,650,423 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv100028 | Remapped | Perfect | NC_000023.11:g.(40 84899_4105333)_(48 72646_4872846)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 4,084,899 | 4,105,333 | 4,872,646 | 4,872,846 |
| essv100648 | Remapped | Perfect | NC_000023.11:g.(41 61034_4161471)_(41 62925_4163254)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 4,161,034 | 4,161,471 | 4,162,925 | 4,163,254 |
| essv100028 | Remapped | Perfect | NC_000023.10:g.(40 02940_4023374)_(47 90687_4790887)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 4,002,940 | 4,023,374 | 4,790,687 | 4,790,887 |
| essv100648 | Remapped | Perfect | NC_000023.10:g.(40 79075_4079512)_(40 80966_4081295)dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 4,079,075 | 4,079,512 | 4,080,966 | 4,081,295 |
| essv100028 | Submitted genomic | NC_000023.8:g.(386 2676_3883110)_(465 0423_4650623)del | NCBI35 (hg17) | NC_000023.8 | ChrX | 3,862,676 | 3,883,110 | 4,650,423 | 4,650,623 | ||
| essv100648 | Submitted genomic | NC_000023.8:g.(393 8811_3939248)_(394 0702_3941031)dup | NCBI35 (hg17) | NC_000023.8 | ChrX | 3,938,811 | 3,939,248 | 3,940,702 | 3,941,031 |