esv29951
- Organism: Homo sapiens
- Study:estd21 (Wheeler et al. 2008)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:123,608
- Publication(s):Wheeler et al. 2008
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: 3491 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 1749 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 73 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 2977 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 1147 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 1693 SVs from 28 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 | Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| esv29951 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 46,088,360 | 46,211,895 | - |
| esv29951 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 790,461 | 914,068 | - |
| esv29951 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_167251.2 | Chr17|NT_1 67251.2 | 1,358,529 | - | 1,429,492 |
| esv29951 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000017.10 | Chr17 | 44,176,718 | 44,289,261 | - |
| esv29951 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003871086.1 | Chr17|NW_0 03871086.1 | 270,134 | 349,823 | - |
| esv29951 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 41,521,544 | 41,645,038 | - |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv84190 | copy number gain | WATSON | Oligo aCGH | Probe signal intensity | 23 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop | Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| essv84190 | Remapped | Good | NT_187663.1:g.(?_7 90461)_(914068_?)d up | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 790,461 | 914,068 | - |
| essv84190 | Remapped | Pass | NT_167251.2:g.(?_1 358529)_1429492dup | GRCh38.p12 | Second Pass | NT_167251.2 | Chr17|NT_1 67251.2 | 1,358,529 | - | 1,429,492 |
| essv84190 | Remapped | Good | NC_000017.11:g.(?_ 46088360)_(4621189 5_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,088,360 | 46,211,895 | - |
| essv84190 | Remapped | Pass | NW_003871086.1:g.( ?_270134)_(349823_ ?)dup | GRCh37.p13 | First Pass | NW_003871086.1 | Chr17|NW_0 03871086.1 | 270,134 | 349,823 | - |
| essv84190 | Remapped | Pass | NC_000017.10:g.(?_ 44176718)_(4428926 1_?)dup | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 44,176,718 | 44,289,261 | - |
| essv84190 | Submitted genomic | NC_000017.9:g.(?_4 1521544)_(41645038 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 41,521,544 | 41,645,038 | - |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv84190 | 2 | WATSON | Oligo aCGH | Probe signal intensity | Pass |
| essv84190 | 4 | WATSON | Oligo aCGH | Probe signal intensity | Pass |
| essv84190 | 3 | WATSON | Sequencing | Read depth | Pass |