esv17903
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:11
- Validation:Yes
- Clinical Assertions: No
- Region Size:42,080
- Publication(s):Conrad et al. 2009
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: 794 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 795 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 548 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv17903 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 16,757,055 | 16,799,134 |
| esv17903 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 17,083,550 | 17,125,629 |
| esv17903 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 16,956,137 | 16,998,216 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv45611 | copy number gain | NA19129 | Oligo aCGH | Probe signal intensity | 1,564 |
| essv74600 | copy number gain | NA12004 | Oligo aCGH | Probe signal intensity | 1,123 |
| essv81123 | copy number loss | NA19114 | Oligo aCGH | Probe signal intensity | 1,473 |
| essv83559 | copy number loss | NA19190 | Oligo aCGH | Probe signal intensity | 1,600 |
| essv37977 | copy number loss | NA19257 | Oligo aCGH | Probe signal intensity | 1,254 |
| essv42432 | copy number loss | NA18505 | Oligo aCGH | Probe signal intensity | 1,411 |
| essv71650 | copy number loss | NA19225 | Oligo aCGH | Probe signal intensity | 1,558 |
| essv42812 | copy number loss | NA18909 | Oligo aCGH | Probe signal intensity | 1,535 |
| essv69496 | copy number gain | NA12044 | Oligo aCGH | Probe signal intensity | 1,055 |
| essv65652 | copy number loss | NA19240 | Oligo aCGH | Probe signal intensity | 1,563 |
| essv55655 | copy number loss | NA19099 | Oligo aCGH | Probe signal intensity | 1,498 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv45611 | Remapped | Perfect | NC_000001.11:g.(?_ 16748922)_(1679907 9_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,748,922 | 16,799,079 |
| essv74600 | Remapped | Perfect | NC_000001.11:g.(?_ 16757055)_(1679913 4_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,757,055 | 16,799,134 |
| essv81123 | Remapped | Perfect | NC_000001.11:g.(?_ 16761504)_(1679913 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,761,504 | 16,799,134 |
| essv83559 | Remapped | Perfect | NC_000001.11:g.(?_ 16761519)_(1679913 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,761,519 | 16,799,134 |
| essv37977 | Remapped | Perfect | NC_000001.11:g.(?_ 16761574)_(1679913 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,761,574 | 16,799,134 |
| essv42432 | Remapped | Perfect | NC_000001.11:g.(?_ 16761574)_(1679913 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,761,574 | 16,799,134 |
| essv71650 | Remapped | Perfect | NC_000001.11:g.(?_ 16761574)_(1679913 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,761,574 | 16,799,134 |
| essv42812 | Remapped | Perfect | NC_000001.11:g.(?_ 16761629)_(1679913 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,761,629 | 16,799,134 |
| essv69496 | Remapped | Perfect | NC_000001.11:g.(?_ 16761834)_(1679824 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,761,834 | 16,798,245 |
| essv65652 | Remapped | Perfect | NC_000001.11:g.(?_ 16762454)_(1679824 5_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,762,454 | 16,798,245 |
| essv55655 | Remapped | Perfect | NC_000001.11:g.(?_ 16763189)_(1679913 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,763,189 | 16,799,134 |
| essv45611 | Remapped | Perfect | NC_000001.10:g.(?_ 17075417)_(1712557 4_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 17,075,417 | 17,125,574 |
| essv74600 | Remapped | Perfect | NC_000001.10:g.(?_ 17083550)_(1712562 9_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 17,083,550 | 17,125,629 |
| essv81123 | Remapped | Perfect | NC_000001.10:g.(?_ 17087999)_(1712562 9_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 17,087,999 | 17,125,629 |
| essv83559 | Remapped | Perfect | NC_000001.10:g.(?_ 17088014)_(1712562 9_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 17,088,014 | 17,125,629 |
| essv37977 | Remapped | Perfect | NC_000001.10:g.(?_ 17088069)_(1712562 9_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 17,088,069 | 17,125,629 |
| essv42432 | Remapped | Perfect | NC_000001.10:g.(?_ 17088069)_(1712562 9_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 17,088,069 | 17,125,629 |
| essv71650 | Remapped | Perfect | NC_000001.10:g.(?_ 17088069)_(1712562 9_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 17,088,069 | 17,125,629 |
| essv42812 | Remapped | Perfect | NC_000001.10:g.(?_ 17088124)_(1712562 9_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 17,088,124 | 17,125,629 |
| essv69496 | Remapped | Perfect | NC_000001.10:g.(?_ 17088329)_(1712474 0_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 17,088,329 | 17,124,740 |
| essv65652 | Remapped | Perfect | NC_000001.10:g.(?_ 17088949)_(1712474 0_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 17,088,949 | 17,124,740 |
| essv55655 | Remapped | Perfect | NC_000001.10:g.(?_ 17089684)_(1712562 9_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 17,089,684 | 17,125,629 |
| essv45611 | Submitted genomic | NC_000001.9:g.(?_1 6948004)_(16998161 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 16,948,004 | 16,998,161 | ||
| essv74600 | Submitted genomic | NC_000001.9:g.(?_1 6956137)_(16998216 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 16,956,137 | 16,998,216 | ||
| essv81123 | Submitted genomic | NC_000001.9:g.(?_1 6960586)_(16998216 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 16,960,586 | 16,998,216 | ||
| essv83559 | Submitted genomic | NC_000001.9:g.(?_1 6960601)_(16998216 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 16,960,601 | 16,998,216 | ||
| essv37977 | Submitted genomic | NC_000001.9:g.(?_1 6960656)_(16998216 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 16,960,656 | 16,998,216 | ||
| essv42432 | Submitted genomic | NC_000001.9:g.(?_1 6960656)_(16998216 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 16,960,656 | 16,998,216 | ||
| essv71650 | Submitted genomic | NC_000001.9:g.(?_1 6960656)_(16998216 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 16,960,656 | 16,998,216 | ||
| essv42812 | Submitted genomic | NC_000001.9:g.(?_1 6960711)_(16998216 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 16,960,711 | 16,998,216 | ||
| essv69496 | Submitted genomic | NC_000001.9:g.(?_1 6960916)_(16997327 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 16,960,916 | 16,997,327 | ||
| essv65652 | Submitted genomic | NC_000001.9:g.(?_1 6961536)_(16997327 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 16,961,536 | 16,997,327 | ||
| essv55655 | Submitted genomic | NC_000001.9:g.(?_1 6962271)_(16998216 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 16,962,271 | 16,998,216 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv74600 | 2 | NA12004 | Oligo aCGH | Probe signal intensity | Pass |
| essv69496 | 2 | NA12044 | Oligo aCGH | Probe signal intensity | Pass |
| essv42432 | 2 | NA18505 | Oligo aCGH | Probe signal intensity | Pass |
| essv42812 | 2 | NA18909 | Oligo aCGH | Probe signal intensity | Pass |
| essv55655 | 2 | NA19099 | Oligo aCGH | Probe signal intensity | Pass |
| essv81123 | 2 | NA19114 | Oligo aCGH | Probe signal intensity | Pass |
| essv45611 | 2 | NA19129 | Oligo aCGH | Probe signal intensity | Pass |
| essv83559 | 2 | NA19190 | Oligo aCGH | Probe signal intensity | Pass |
| essv71650 | 2 | NA19225 | Oligo aCGH | Probe signal intensity | Pass |
| essv65652 | 2 | NA19240 | Oligo aCGH | Probe signal intensity | Pass |
| essv37977 | 2 | NA19257 | Oligo aCGH | Probe signal intensity | Pass |