esv2758166
- Organism: Homo sapiens
- Study:estd1 (Redon et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:167,834
- 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: 705 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 705 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 26 SVs from 5 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 |
---|---|---|---|---|---|---|---|---|---|
esv2758166 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 99,016,620 | 99,184,453 |
esv2758166 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 100,028,848 | 100,196,681 |
esv2758166 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000008.9 | Chr8 | 100,098,024 | 100,265,857 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv10358 | copy number gain | NA18506 | BAC aCGH | Probe signal intensity | 121 |
essv11718 | copy number gain | NA19154 | BAC aCGH | Probe signal intensity | 139 |
essv16993 | copy number gain | NA19144 | BAC aCGH | Probe signal intensity | 157 |
essv21732 | copy number gain | NA12248 | BAC aCGH | Probe signal intensity | 109 |
essv4857 | copy number gain | NA18540 | BAC aCGH | Probe signal intensity | 75 |
essv5338 | copy number gain | NA18563 | BAC aCGH | Probe signal intensity | 139 |
essv8248 | copy number gain | NA19116 | BAC aCGH | Probe signal intensity | 95 |
essv872 | copy number gain | NA19000 | BAC aCGH | Probe signal intensity | 93 |
essv9929 | copy number gain | NA19145 | BAC aCGH | Probe signal intensity | 115 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv10358 | Remapped | Perfect | NC_000008.11:g.(?_ 99016620)_(9918445 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 99,016,620 | 99,184,453 |
essv11718 | Remapped | Perfect | NC_000008.11:g.(?_ 99016620)_(9918445 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 99,016,620 | 99,184,453 |
essv16993 | Remapped | Perfect | NC_000008.11:g.(?_ 99016620)_(9918445 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 99,016,620 | 99,184,453 |
essv21732 | Remapped | Perfect | NC_000008.11:g.(?_ 99016620)_(9918445 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 99,016,620 | 99,184,453 |
essv4857 | Remapped | Perfect | NC_000008.11:g.(?_ 99016620)_(9918445 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 99,016,620 | 99,184,453 |
essv5338 | Remapped | Perfect | NC_000008.11:g.(?_ 99016620)_(9918445 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 99,016,620 | 99,184,453 |
essv8248 | Remapped | Perfect | NC_000008.11:g.(?_ 99016620)_(9918445 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 99,016,620 | 99,184,453 |
essv872 | Remapped | Perfect | NC_000008.11:g.(?_ 99016620)_(9918445 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 99,016,620 | 99,184,453 |
essv9929 | Remapped | Perfect | NC_000008.11:g.(?_ 99016620)_(9918445 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 99,016,620 | 99,184,453 |
essv10358 | Remapped | Perfect | NC_000008.10:g.(?_ 100028848)_(100196 681_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 100,028,848 | 100,196,681 |
essv11718 | Remapped | Perfect | NC_000008.10:g.(?_ 100028848)_(100196 681_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 100,028,848 | 100,196,681 |
essv16993 | Remapped | Perfect | NC_000008.10:g.(?_ 100028848)_(100196 681_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 100,028,848 | 100,196,681 |
essv21732 | Remapped | Perfect | NC_000008.10:g.(?_ 100028848)_(100196 681_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 100,028,848 | 100,196,681 |
essv4857 | Remapped | Perfect | NC_000008.10:g.(?_ 100028848)_(100196 681_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 100,028,848 | 100,196,681 |
essv5338 | Remapped | Perfect | NC_000008.10:g.(?_ 100028848)_(100196 681_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 100,028,848 | 100,196,681 |
essv8248 | Remapped | Perfect | NC_000008.10:g.(?_ 100028848)_(100196 681_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 100,028,848 | 100,196,681 |
essv872 | Remapped | Perfect | NC_000008.10:g.(?_ 100028848)_(100196 681_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 100,028,848 | 100,196,681 |
essv9929 | Remapped | Perfect | NC_000008.10:g.(?_ 100028848)_(100196 681_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 100,028,848 | 100,196,681 |
essv10358 | Submitted genomic | NC_000008.9:g.(?_1 00098024)_(1002658 57_?)dup | NCBI35 (hg17) | NC_000008.9 | Chr8 | 100,098,024 | 100,265,857 | ||
essv11718 | Submitted genomic | NC_000008.9:g.(?_1 00098024)_(1002658 57_?)dup | NCBI35 (hg17) | NC_000008.9 | Chr8 | 100,098,024 | 100,265,857 | ||
essv16993 | Submitted genomic | NC_000008.9:g.(?_1 00098024)_(1002658 57_?)dup | NCBI35 (hg17) | NC_000008.9 | Chr8 | 100,098,024 | 100,265,857 | ||
essv21732 | Submitted genomic | NC_000008.9:g.(?_1 00098024)_(1002658 57_?)dup | NCBI35 (hg17) | NC_000008.9 | Chr8 | 100,098,024 | 100,265,857 | ||
essv4857 | Submitted genomic | NC_000008.9:g.(?_1 00098024)_(1002658 57_?)dup | NCBI35 (hg17) | NC_000008.9 | Chr8 | 100,098,024 | 100,265,857 | ||
essv5338 | Submitted genomic | NC_000008.9:g.(?_1 00098024)_(1002658 57_?)dup | NCBI35 (hg17) | NC_000008.9 | Chr8 | 100,098,024 | 100,265,857 | ||
essv8248 | Submitted genomic | NC_000008.9:g.(?_1 00098024)_(1002658 57_?)dup | NCBI35 (hg17) | NC_000008.9 | Chr8 | 100,098,024 | 100,265,857 | ||
essv872 | Submitted genomic | NC_000008.9:g.(?_1 00098024)_(1002658 57_?)dup | NCBI35 (hg17) | NC_000008.9 | Chr8 | 100,098,024 | 100,265,857 | ||
essv9929 | Submitted genomic | NC_000008.9:g.(?_1 00098024)_(1002658 57_?)dup | NCBI35 (hg17) | NC_000008.9 | Chr8 | 100,098,024 | 100,265,857 |