esv2758297
- Organism: Homo sapiens
- Study:estd1 (Redon et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:175,606
- Publication(s):Redon et al. 2006
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: 892 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 892 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 26 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2758297 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 20,789,281 | 20,964,886 |
| esv2758297 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 20,942,215 | 21,117,820 |
| esv2758297 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 20,833,482 | 21,009,087 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv11628 | copy number loss | NA19154 | BAC aCGH | Probe signal intensity | 139 |
| essv17481 | copy number gain | NA12762 | BAC aCGH | Probe signal intensity | 148 |
| essv17917 | copy number gain | NA12003 | BAC aCGH | Probe signal intensity | 123 |
| essv18190 | copy number gain | NA12057 | BAC aCGH | Probe signal intensity | 104 |
| essv18293 | copy number loss | NA10846 | BAC aCGH | Probe signal intensity | 109 |
| essv18711 | copy number gain | NA12874 | BAC aCGH | Probe signal intensity | 101 |
| essv20216 | copy number gain | NA12144 | BAC aCGH | Probe signal intensity | 116 |
| essv20415 | copy number gain | NA10830 | BAC aCGH | Probe signal intensity | 106 |
| essv2083 | copy number gain | NA18949 | BAC aCGH | Probe signal intensity | 133 |
| essv23025 | copy number gain | NA12812 | BAC aCGH | Probe signal intensity | 115 |
| essv23421 | copy number gain | NA10854 | BAC aCGH | Probe signal intensity | 99 |
| essv23952 | copy number gain | NA12814 | BAC aCGH | Probe signal intensity | 131 |
| essv6684 | copy number gain | NA18608 | BAC aCGH | Probe signal intensity | 99 |
| essv9144 | copy number gain | NA18860 | BAC aCGH | Probe signal intensity | 83 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv11628 | Remapped | Perfect | NC_000012.12:g.(?_ 20789281)_(2096488 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 20,789,281 | 20,964,886 |
| essv17481 | Remapped | Perfect | NC_000012.12:g.(?_ 20789281)_(2096488 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 20,789,281 | 20,964,886 |
| essv17917 | Remapped | Perfect | NC_000012.12:g.(?_ 20789281)_(2096488 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 20,789,281 | 20,964,886 |
| essv18190 | Remapped | Perfect | NC_000012.12:g.(?_ 20789281)_(2096488 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 20,789,281 | 20,964,886 |
| essv18293 | Remapped | Perfect | NC_000012.12:g.(?_ 20789281)_(2096488 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 20,789,281 | 20,964,886 |
| essv18711 | Remapped | Perfect | NC_000012.12:g.(?_ 20789281)_(2096488 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 20,789,281 | 20,964,886 |
| essv20216 | Remapped | Perfect | NC_000012.12:g.(?_ 20789281)_(2096488 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 20,789,281 | 20,964,886 |
| essv20415 | Remapped | Perfect | NC_000012.12:g.(?_ 20789281)_(2096488 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 20,789,281 | 20,964,886 |
| essv2083 | Remapped | Perfect | NC_000012.12:g.(?_ 20789281)_(2096488 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 20,789,281 | 20,964,886 |
| essv23025 | Remapped | Perfect | NC_000012.12:g.(?_ 20789281)_(2096488 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 20,789,281 | 20,964,886 |
| essv23421 | Remapped | Perfect | NC_000012.12:g.(?_ 20789281)_(2096488 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 20,789,281 | 20,964,886 |
| essv23952 | Remapped | Perfect | NC_000012.12:g.(?_ 20789281)_(2096488 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 20,789,281 | 20,964,886 |
| essv6684 | Remapped | Perfect | NC_000012.12:g.(?_ 20789281)_(2096488 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 20,789,281 | 20,964,886 |
| essv9144 | Remapped | Perfect | NC_000012.12:g.(?_ 20789281)_(2096488 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 20,789,281 | 20,964,886 |
| essv11628 | Remapped | Perfect | NC_000012.11:g.(?_ 20942215)_(2111782 0_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 20,942,215 | 21,117,820 |
| essv17481 | Remapped | Perfect | NC_000012.11:g.(?_ 20942215)_(2111782 0_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 20,942,215 | 21,117,820 |
| essv17917 | Remapped | Perfect | NC_000012.11:g.(?_ 20942215)_(2111782 0_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 20,942,215 | 21,117,820 |
| essv18190 | Remapped | Perfect | NC_000012.11:g.(?_ 20942215)_(2111782 0_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 20,942,215 | 21,117,820 |
| essv18293 | Remapped | Perfect | NC_000012.11:g.(?_ 20942215)_(2111782 0_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 20,942,215 | 21,117,820 |
| essv18711 | Remapped | Perfect | NC_000012.11:g.(?_ 20942215)_(2111782 0_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 20,942,215 | 21,117,820 |
| essv20216 | Remapped | Perfect | NC_000012.11:g.(?_ 20942215)_(2111782 0_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 20,942,215 | 21,117,820 |
| essv20415 | Remapped | Perfect | NC_000012.11:g.(?_ 20942215)_(2111782 0_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 20,942,215 | 21,117,820 |
| essv2083 | Remapped | Perfect | NC_000012.11:g.(?_ 20942215)_(2111782 0_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 20,942,215 | 21,117,820 |
| essv23025 | Remapped | Perfect | NC_000012.11:g.(?_ 20942215)_(2111782 0_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 20,942,215 | 21,117,820 |
| essv23421 | Remapped | Perfect | NC_000012.11:g.(?_ 20942215)_(2111782 0_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 20,942,215 | 21,117,820 |
| essv23952 | Remapped | Perfect | NC_000012.11:g.(?_ 20942215)_(2111782 0_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 20,942,215 | 21,117,820 |
| essv6684 | Remapped | Perfect | NC_000012.11:g.(?_ 20942215)_(2111782 0_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 20,942,215 | 21,117,820 |
| essv9144 | Remapped | Perfect | NC_000012.11:g.(?_ 20942215)_(2111782 0_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 20,942,215 | 21,117,820 |
| essv11628 | Submitted genomic | NC_000012.9:g.(?_2 0833482)_(21009087 _?)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 20,833,482 | 21,009,087 | ||
| essv17481 | Submitted genomic | NC_000012.9:g.(?_2 0833482)_(21009087 _?)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 20,833,482 | 21,009,087 | ||
| essv17917 | Submitted genomic | NC_000012.9:g.(?_2 0833482)_(21009087 _?)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 20,833,482 | 21,009,087 | ||
| essv18190 | Submitted genomic | NC_000012.9:g.(?_2 0833482)_(21009087 _?)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 20,833,482 | 21,009,087 | ||
| essv18293 | Submitted genomic | NC_000012.9:g.(?_2 0833482)_(21009087 _?)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 20,833,482 | 21,009,087 | ||
| essv18711 | Submitted genomic | NC_000012.9:g.(?_2 0833482)_(21009087 _?)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 20,833,482 | 21,009,087 | ||
| essv20216 | Submitted genomic | NC_000012.9:g.(?_2 0833482)_(21009087 _?)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 20,833,482 | 21,009,087 | ||
| essv20415 | Submitted genomic | NC_000012.9:g.(?_2 0833482)_(21009087 _?)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 20,833,482 | 21,009,087 | ||
| essv2083 | Submitted genomic | NC_000012.9:g.(?_2 0833482)_(21009087 _?)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 20,833,482 | 21,009,087 | ||
| essv23025 | Submitted genomic | NC_000012.9:g.(?_2 0833482)_(21009087 _?)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 20,833,482 | 21,009,087 | ||
| essv23421 | Submitted genomic | NC_000012.9:g.(?_2 0833482)_(21009087 _?)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 20,833,482 | 21,009,087 | ||
| essv23952 | Submitted genomic | NC_000012.9:g.(?_2 0833482)_(21009087 _?)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 20,833,482 | 21,009,087 | ||
| essv6684 | Submitted genomic | NC_000012.9:g.(?_2 0833482)_(21009087 _?)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 20,833,482 | 21,009,087 | ||
| essv9144 | Submitted genomic | NC_000012.9:g.(?_2 0833482)_(21009087 _?)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 20,833,482 | 21,009,087 |