esv14932
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:9
- Validation:Yes
- Clinical Assertions: No
- Region Size:29,640
- 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: 382 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 444 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 180 SVs from 25 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv14932 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000010.11 | Chr10 | 79,715,091 | 79,744,730 |
| esv14932 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000010.10 | Chr10 | 81,474,847 | 81,504,486 |
| esv14932 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 81,465,041 | 81,494,668 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv60459 | copy number loss | NA18523 | Oligo aCGH | Probe signal intensity | 1,446 |
| essv77430 | copy number loss | NA18511 | Oligo aCGH | Probe signal intensity | 986 |
| essv44936 | copy number loss | NA12489 | Oligo aCGH | Probe signal intensity | 1,098 |
| essv78266 | copy number loss | NA06985 | Oligo aCGH | Probe signal intensity | 1,144 |
| essv83868 | copy number loss | NA19190 | Oligo aCGH | Probe signal intensity | 1,600 |
| essv73615 | copy number loss | NA12156 | Oligo aCGH | Probe signal intensity | 1,085 |
| essv53423 | copy number loss | NA18508 | Oligo aCGH | Probe signal intensity | 1,478 |
| essv70050 | copy number loss | NA12044 | Oligo aCGH | Probe signal intensity | 1,055 |
| essv40158 | copy number loss | NA12878 | Oligo aCGH | Probe signal intensity | 1,172 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv60459 | Remapped | Good | NC_000010.11:g.(?_ 79715091)_(7974166 7_?)del | GRCh38.p12 | Second Pass | NC_000010.11 | Chr10 | 79,715,091 | 79,741,667 |
| essv77430 | Remapped | Good | NC_000010.11:g.(?_ 79715091)_(7974346 0_?)del | GRCh38.p12 | Second Pass | NC_000010.11 | Chr10 | 79,715,091 | 79,743,460 |
| essv44936 | Remapped | Good | NC_000010.11:g.(?_ 79715250)_(7974136 9_?)del | GRCh38.p12 | Second Pass | NC_000010.11 | Chr10 | 79,715,250 | 79,741,369 |
| essv78266 | Remapped | Good | NC_000010.11:g.(?_ 79715250)_(7974189 7_?)del | GRCh38.p12 | Second Pass | NC_000010.11 | Chr10 | 79,715,250 | 79,741,897 |
| essv83868 | Remapped | Good | NC_000010.11:g.(?_ 79715250)_(7974256 7_?)del | GRCh38.p12 | Second Pass | NC_000010.11 | Chr10 | 79,715,250 | 79,742,567 |
| essv73615 | Remapped | Good | NC_000010.11:g.(?_ 79715250)_(7974346 0_?)del | GRCh38.p12 | Second Pass | NC_000010.11 | Chr10 | 79,715,250 | 79,743,460 |
| essv53423 | Remapped | Good | NC_000010.11:g.(?_ 79715250)_(7974473 0_?)del | GRCh38.p12 | Second Pass | NC_000010.11 | Chr10 | 79,715,250 | 79,744,730 |
| essv70050 | Remapped | Good | NC_000010.11:g.(?_ 79715360)_(7974227 9_?)del | GRCh38.p12 | Second Pass | NC_000010.11 | Chr10 | 79,715,360 | 79,742,279 |
| essv40158 | Remapped | Good | NC_000010.11:g.(?_ 79715424)_(7974189 7_?)del | GRCh38.p12 | Second Pass | NC_000010.11 | Chr10 | 79,715,424 | 79,741,897 |
| essv60459 | Remapped | Good | NC_000010.10:g.(?_ 81474847)_(8150142 3_?)del | GRCh37.p13 | Second Pass | NC_000010.10 | Chr10 | 81,474,847 | 81,501,423 |
| essv77430 | Remapped | Good | NC_000010.10:g.(?_ 81474847)_(8150321 6_?)del | GRCh37.p13 | Second Pass | NC_000010.10 | Chr10 | 81,474,847 | 81,503,216 |
| essv44936 | Remapped | Good | NC_000010.10:g.(?_ 81475006)_(8150112 5_?)del | GRCh37.p13 | Second Pass | NC_000010.10 | Chr10 | 81,475,006 | 81,501,125 |
| essv78266 | Remapped | Good | NC_000010.10:g.(?_ 81475006)_(8150165 3_?)del | GRCh37.p13 | Second Pass | NC_000010.10 | Chr10 | 81,475,006 | 81,501,653 |
| essv83868 | Remapped | Good | NC_000010.10:g.(?_ 81475006)_(8150232 3_?)del | GRCh37.p13 | Second Pass | NC_000010.10 | Chr10 | 81,475,006 | 81,502,323 |
| essv73615 | Remapped | Good | NC_000010.10:g.(?_ 81475006)_(8150321 6_?)del | GRCh37.p13 | Second Pass | NC_000010.10 | Chr10 | 81,475,006 | 81,503,216 |
| essv53423 | Remapped | Good | NC_000010.10:g.(?_ 81475006)_(8150448 6_?)del | GRCh37.p13 | Second Pass | NC_000010.10 | Chr10 | 81,475,006 | 81,504,486 |
| essv70050 | Remapped | Good | NC_000010.10:g.(?_ 81475116)_(8150203 5_?)del | GRCh37.p13 | Second Pass | NC_000010.10 | Chr10 | 81,475,116 | 81,502,035 |
| essv40158 | Remapped | Good | NC_000010.10:g.(?_ 81475180)_(8150165 3_?)del | GRCh37.p13 | Second Pass | NC_000010.10 | Chr10 | 81,475,180 | 81,501,653 |
| essv60459 | Submitted genomic | NC_000010.9:g.(?_8 1465041)_(81491605 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 81,465,041 | 81,491,605 | ||
| essv77430 | Submitted genomic | NC_000010.9:g.(?_8 1465041)_(81493398 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 81,465,041 | 81,493,398 | ||
| essv44936 | Submitted genomic | NC_000010.9:g.(?_8 1465200)_(81491307 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 81,465,200 | 81,491,307 | ||
| essv78266 | Submitted genomic | NC_000010.9:g.(?_8 1465200)_(81491835 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 81,465,200 | 81,491,835 | ||
| essv83868 | Submitted genomic | NC_000010.9:g.(?_8 1465200)_(81492505 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 81,465,200 | 81,492,505 | ||
| essv73615 | Submitted genomic | NC_000010.9:g.(?_8 1465200)_(81493398 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 81,465,200 | 81,493,398 | ||
| essv53423 | Submitted genomic | NC_000010.9:g.(?_8 1465200)_(81494668 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 81,465,200 | 81,494,668 | ||
| essv70050 | Submitted genomic | NC_000010.9:g.(?_8 1465310)_(81492217 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 81,465,310 | 81,492,217 | ||
| essv40158 | Submitted genomic | NC_000010.9:g.(?_8 1465374)_(81491835 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 81,465,374 | 81,491,835 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv78266 | 2 | NA06985 | Oligo aCGH | Probe signal intensity | Pass |
| essv70050 | 2 | NA12044 | Oligo aCGH | Probe signal intensity | Pass |
| essv73615 | 2 | NA12156 | Oligo aCGH | Probe signal intensity | Pass |
| essv44936 | 2 | NA12489 | Oligo aCGH | Probe signal intensity | Pass |
| essv40158 | 2 | NA12878 | Oligo aCGH | Probe signal intensity | Pass |
| essv53423 | 2 | NA18508 | Oligo aCGH | Probe signal intensity | Pass |
| essv77430 | 2 | NA18511 | Oligo aCGH | Probe signal intensity | Pass |
| essv60459 | 2 | NA18523 | Oligo aCGH | Probe signal intensity | Pass |
| essv83868 | 2 | NA19190 | Oligo aCGH | Probe signal intensity | Pass |