esv2758087
- Organism: Homo sapiens
- Study:estd1 (Redon et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:156,667
- 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: 506 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 506 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 33 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2758087 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 153,816,648 | 153,973,314 |
| esv2758087 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 154,137,783 | 154,294,449 |
| esv2758087 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 154,229,897 | 154,386,563 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv24854 | copy number loss | NA07000 | BAC aCGH | Probe signal intensity | 97 |
| essv3465 | copy number loss | NA18992 | BAC aCGH | Probe signal intensity | 62 |
| essv4504 | copy number loss | NA18552 | BAC aCGH | Probe signal intensity | 99 |
| essv5088 | copy number loss | NA18577 | BAC aCGH | Probe signal intensity | 74 |
| essv524 | copy number loss | NA18998 | BAC aCGH | Probe signal intensity | 94 |
| essv5919 | copy number loss | NA18550 | BAC aCGH | Probe signal intensity | 63 |
| essv7264 | copy number loss | NA18592 | BAC aCGH | Probe signal intensity | 70 |
| essv73 | copy number loss | NA18991 | BAC aCGH | Probe signal intensity | 100 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv24854 | Remapped | Perfect | NC_000006.12:g.(?_ 153816648)_(153973 314_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 153,816,648 | 153,973,314 |
| essv3465 | Remapped | Perfect | NC_000006.12:g.(?_ 153816648)_(153973 314_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 153,816,648 | 153,973,314 |
| essv4504 | Remapped | Perfect | NC_000006.12:g.(?_ 153816648)_(153973 314_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 153,816,648 | 153,973,314 |
| essv5088 | Remapped | Perfect | NC_000006.12:g.(?_ 153816648)_(153973 314_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 153,816,648 | 153,973,314 |
| essv524 | Remapped | Perfect | NC_000006.12:g.(?_ 153816648)_(153973 314_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 153,816,648 | 153,973,314 |
| essv5919 | Remapped | Perfect | NC_000006.12:g.(?_ 153816648)_(153973 314_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 153,816,648 | 153,973,314 |
| essv7264 | Remapped | Perfect | NC_000006.12:g.(?_ 153816648)_(153973 314_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 153,816,648 | 153,973,314 |
| essv73 | Remapped | Perfect | NC_000006.12:g.(?_ 153816648)_(153973 314_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 153,816,648 | 153,973,314 |
| essv24854 | Remapped | Perfect | NC_000006.11:g.(?_ 154137783)_(154294 449_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 154,137,783 | 154,294,449 |
| essv3465 | Remapped | Perfect | NC_000006.11:g.(?_ 154137783)_(154294 449_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 154,137,783 | 154,294,449 |
| essv4504 | Remapped | Perfect | NC_000006.11:g.(?_ 154137783)_(154294 449_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 154,137,783 | 154,294,449 |
| essv5088 | Remapped | Perfect | NC_000006.11:g.(?_ 154137783)_(154294 449_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 154,137,783 | 154,294,449 |
| essv524 | Remapped | Perfect | NC_000006.11:g.(?_ 154137783)_(154294 449_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 154,137,783 | 154,294,449 |
| essv5919 | Remapped | Perfect | NC_000006.11:g.(?_ 154137783)_(154294 449_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 154,137,783 | 154,294,449 |
| essv7264 | Remapped | Perfect | NC_000006.11:g.(?_ 154137783)_(154294 449_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 154,137,783 | 154,294,449 |
| essv73 | Remapped | Perfect | NC_000006.11:g.(?_ 154137783)_(154294 449_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 154,137,783 | 154,294,449 |
| essv24854 | Submitted genomic | NC_000006.9:g.(?_1 54229897)_(1543865 63_?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 154,229,897 | 154,386,563 | ||
| essv3465 | Submitted genomic | NC_000006.9:g.(?_1 54229897)_(1543865 63_?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 154,229,897 | 154,386,563 | ||
| essv4504 | Submitted genomic | NC_000006.9:g.(?_1 54229897)_(1543865 63_?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 154,229,897 | 154,386,563 | ||
| essv5088 | Submitted genomic | NC_000006.9:g.(?_1 54229897)_(1543865 63_?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 154,229,897 | 154,386,563 | ||
| essv524 | Submitted genomic | NC_000006.9:g.(?_1 54229897)_(1543865 63_?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 154,229,897 | 154,386,563 | ||
| essv5919 | Submitted genomic | NC_000006.9:g.(?_1 54229897)_(1543865 63_?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 154,229,897 | 154,386,563 | ||
| essv7264 | Submitted genomic | NC_000006.9:g.(?_1 54229897)_(1543865 63_?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 154,229,897 | 154,386,563 | ||
| essv73 | Submitted genomic | NC_000006.9:g.(?_1 54229897)_(1543865 63_?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 154,229,897 | 154,386,563 |