esv33486
- Organism: Homo sapiens
- Study:estd24 (de Smith et al. 2007)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:4,029
- Publication(s):de Smith et al. 2007
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: 1146 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1146 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 44 SVs from 8 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv33486 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 134,733,705 | 134,737,733 |
| esv33486 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 134,603,599 | 134,607,627 |
| esv33486 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000011.8 | Chr11 | 134,108,809 | 134,112,837 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv92797 | copy number loss | 21944 | Oligo aCGH | Probe signal intensity | 167 |
| essv94095 | copy number loss | 21802 | Oligo aCGH | Probe signal intensity | 176 |
| essv95687 | copy number loss | 21841 | Oligo aCGH | Probe signal intensity | 196 |
| essv101188 | copy number loss | 21618 | Oligo aCGH | Probe signal intensity | 173 |
| essv99066 | copy number loss | 21938 | Oligo aCGH | Probe signal intensity | 201 |
| essv100294 | copy number loss | 22300 | Oligo aCGH | Probe signal intensity | 163 |
| essv93910 | copy number loss | 21634 | Oligo aCGH | Probe signal intensity | 176 |
| essv95502 | copy number loss | 21847 | Oligo aCGH | Probe signal intensity | 152 |
| essv98396 | copy number loss | 22352 | Oligo aCGH | Probe signal intensity | 185 |
| essv96854 | copy number loss | 21659 | Oligo aCGH | Probe signal intensity | 128 |
| essv98119 | copy number loss | 22259 | Oligo aCGH | Probe signal intensity | 159 |
| essv99389 | copy number gain | 22335 | Oligo aCGH | Probe signal intensity | 206 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv92797 | Remapped | Perfect | NC_000011.10:g.(13 4731603_134733705) _(134734797_134734 966)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,731,603 | 134,733,705 | 134,734,797 | 134,734,966 |
| essv94095 | Remapped | Perfect | NC_000011.10:g.(13 4731603_134733705) _(134734797_134734 966)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,731,603 | 134,733,705 | 134,734,797 | 134,734,966 |
| essv95687 | Remapped | Perfect | NC_000011.10:g.(13 4731603_134733705) _(134734797_134734 966)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,731,603 | 134,733,705 | 134,734,797 | 134,734,966 |
| essv101188 | Remapped | Perfect | NC_000011.10:g.(13 4731603_134733705) _(134734966_134735 066)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,731,603 | 134,733,705 | 134,734,966 | 134,735,066 |
| essv99066 | Remapped | Perfect | NC_000011.10:g.(13 4731603_134733705) _(134734966_134735 066)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,731,603 | 134,733,705 | 134,734,966 | 134,735,066 |
| essv100294 | Remapped | Perfect | NC_000011.10:g.(13 4731603_134733705) _(134736742_134737 121)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,731,603 | 134,733,705 | 134,736,742 | 134,737,121 |
| essv93910 | Remapped | Perfect | NC_000011.10:g.(13 4731603_134733705) _(134736742_134737 121)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,731,603 | 134,733,705 | 134,736,742 | 134,737,121 |
| essv95502 | Remapped | Perfect | NC_000011.10:g.(13 4731603_134733705) _(134736742_134737 121)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,731,603 | 134,733,705 | 134,736,742 | 134,737,121 |
| essv98396 | Remapped | Perfect | NC_000011.10:g.(13 4731603_134733705) _(134736742_134737 121)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,731,603 | 134,733,705 | 134,736,742 | 134,737,121 |
| essv96854 | Remapped | Perfect | NC_000011.10:g.(13 4731603_134733705) _(134737733_134737 963)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,731,603 | 134,733,705 | 134,737,733 | 134,737,963 |
| essv98119 | Remapped | Perfect | NC_000011.10:g.(13 4731603_134733705) _(134737733_134737 963)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,731,603 | 134,733,705 | 134,737,733 | 134,737,963 |
| essv99389 | Remapped | Perfect | NC_000011.10:g.(13 4734011_134734286) _(134736542_134736 742)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 134,734,011 | 134,734,286 | 134,736,542 | 134,736,742 |
| essv92797 | Remapped | Perfect | NC_000011.9:g.(134 601497_134603599)_ (134604691_1346048 60)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,601,497 | 134,603,599 | 134,604,691 | 134,604,860 |
| essv94095 | Remapped | Perfect | NC_000011.9:g.(134 601497_134603599)_ (134604691_1346048 60)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,601,497 | 134,603,599 | 134,604,691 | 134,604,860 |
| essv95687 | Remapped | Perfect | NC_000011.9:g.(134 601497_134603599)_ (134604691_1346048 60)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,601,497 | 134,603,599 | 134,604,691 | 134,604,860 |
| essv101188 | Remapped | Perfect | NC_000011.9:g.(134 601497_134603599)_ (134604860_1346049 60)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,601,497 | 134,603,599 | 134,604,860 | 134,604,960 |
| essv99066 | Remapped | Perfect | NC_000011.9:g.(134 601497_134603599)_ (134604860_1346049 60)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,601,497 | 134,603,599 | 134,604,860 | 134,604,960 |
| essv100294 | Remapped | Perfect | NC_000011.9:g.(134 601497_134603599)_ (134606636_1346070 15)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,601,497 | 134,603,599 | 134,606,636 | 134,607,015 |
| essv93910 | Remapped | Perfect | NC_000011.9:g.(134 601497_134603599)_ (134606636_1346070 15)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,601,497 | 134,603,599 | 134,606,636 | 134,607,015 |
| essv95502 | Remapped | Perfect | NC_000011.9:g.(134 601497_134603599)_ (134606636_1346070 15)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,601,497 | 134,603,599 | 134,606,636 | 134,607,015 |
| essv98396 | Remapped | Perfect | NC_000011.9:g.(134 601497_134603599)_ (134606636_1346070 15)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,601,497 | 134,603,599 | 134,606,636 | 134,607,015 |
| essv96854 | Remapped | Perfect | NC_000011.9:g.(134 601497_134603599)_ (134607627_1346078 57)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,601,497 | 134,603,599 | 134,607,627 | 134,607,857 |
| essv98119 | Remapped | Perfect | NC_000011.9:g.(134 601497_134603599)_ (134607627_1346078 57)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,601,497 | 134,603,599 | 134,607,627 | 134,607,857 |
| essv99389 | Remapped | Perfect | NC_000011.9:g.(134 603905_134604180)_ (134606436_1346066 36)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 134,603,905 | 134,604,180 | 134,606,436 | 134,606,636 |
| essv92797 | Submitted genomic | NC_000011.8:g.(134 106707_134108809)_ (134109901_1341100 70)del | NCBI35 (hg17) | NC_000011.8 | Chr11 | 134,106,707 | 134,108,809 | 134,109,901 | 134,110,070 | ||
| essv94095 | Submitted genomic | NC_000011.8:g.(134 106707_134108809)_ (134109901_1341100 70)del | NCBI35 (hg17) | NC_000011.8 | Chr11 | 134,106,707 | 134,108,809 | 134,109,901 | 134,110,070 | ||
| essv95687 | Submitted genomic | NC_000011.8:g.(134 106707_134108809)_ (134109901_1341100 70)del | NCBI35 (hg17) | NC_000011.8 | Chr11 | 134,106,707 | 134,108,809 | 134,109,901 | 134,110,070 | ||
| essv101188 | Submitted genomic | NC_000011.8:g.(134 106707_134108809)_ (134110070_1341101 70)del | NCBI35 (hg17) | NC_000011.8 | Chr11 | 134,106,707 | 134,108,809 | 134,110,070 | 134,110,170 | ||
| essv99066 | Submitted genomic | NC_000011.8:g.(134 106707_134108809)_ (134110070_1341101 70)del | NCBI35 (hg17) | NC_000011.8 | Chr11 | 134,106,707 | 134,108,809 | 134,110,070 | 134,110,170 | ||
| essv100294 | Submitted genomic | NC_000011.8:g.(134 106707_134108809)_ (134111846_1341122 25)del | NCBI35 (hg17) | NC_000011.8 | Chr11 | 134,106,707 | 134,108,809 | 134,111,846 | 134,112,225 | ||
| essv93910 | Submitted genomic | NC_000011.8:g.(134 106707_134108809)_ (134111846_1341122 25)del | NCBI35 (hg17) | NC_000011.8 | Chr11 | 134,106,707 | 134,108,809 | 134,111,846 | 134,112,225 | ||
| essv95502 | Submitted genomic | NC_000011.8:g.(134 106707_134108809)_ (134111846_1341122 25)del | NCBI35 (hg17) | NC_000011.8 | Chr11 | 134,106,707 | 134,108,809 | 134,111,846 | 134,112,225 | ||
| essv98396 | Submitted genomic | NC_000011.8:g.(134 106707_134108809)_ (134111846_1341122 25)del | NCBI35 (hg17) | NC_000011.8 | Chr11 | 134,106,707 | 134,108,809 | 134,111,846 | 134,112,225 | ||
| essv96854 | Submitted genomic | NC_000011.8:g.(134 106707_134108809)_ (134112837_1341130 67)del | NCBI35 (hg17) | NC_000011.8 | Chr11 | 134,106,707 | 134,108,809 | 134,112,837 | 134,113,067 | ||
| essv98119 | Submitted genomic | NC_000011.8:g.(134 106707_134108809)_ (134112837_1341130 67)del | NCBI35 (hg17) | NC_000011.8 | Chr11 | 134,106,707 | 134,108,809 | 134,112,837 | 134,113,067 | ||
| essv99389 | Submitted genomic | NC_000011.8:g.(134 109115_134109390)_ (134111646_1341118 46)dup | NCBI35 (hg17) | NC_000011.8 | Chr11 | 134,109,115 | 134,109,390 | 134,111,646 | 134,111,846 |