esv18480
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:6
- Validation:Yes
- Clinical Assertions: No
- Region Size:27,747
- 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: 383 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 388 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 149 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv18480 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 21,497,896 | 21,525,642 |
| esv18480 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 21,498,005 | 21,525,751 |
| esv18480 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 21,533,762 | 21,561,508 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv56690 | copy number gain | NA12776 | Oligo aCGH | Probe signal intensity | 1,114 |
| essv62430 | copy number gain | NA15510 | Oligo aCGH | Probe signal intensity | 1,307 |
| essv37833 | copy number loss | NA19257 | Oligo aCGH | Probe signal intensity | 1,254 |
| essv78839 | copy number gain | NA12749 | Oligo aCGH | Probe signal intensity | 1,232 |
| essv57283 | copy number gain | NA11993 | Oligo aCGH | Probe signal intensity | 1,116 |
| essv44313 | copy number gain | NA12489 | Oligo aCGH | Probe signal intensity | 1,098 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv56690 | Remapped | Good | NW_016107297.1:g.( ?_147052)_(172151_ ?)dup | GRCh38.p12 | Second Pass | NW_016107297.1 | Chr5|NW_01 6107297.1 | 147,052 | 172,151 |
| essv62430 | Remapped | Good | NW_016107297.1:g.( ?_147642)_(172142_ ?)dup | GRCh38.p12 | Second Pass | NW_016107297.1 | Chr5|NW_01 6107297.1 | 147,642 | 172,142 |
| essv37833 | Remapped | Good | NW_016107297.1:g.( ?_154115)_(171918_ ?)del | GRCh38.p12 | Second Pass | NW_016107297.1 | Chr5|NW_01 6107297.1 | 154,115 | 171,918 |
| essv56690 | Remapped | Perfect | NC_000005.10:g.(?_ 21497896)_(2152300 9_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,497,896 | 21,523,009 |
| essv78839 | Remapped | Perfect | NC_000005.10:g.(?_ 21497896)_(2152332 9_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,497,896 | 21,523,329 |
| essv62430 | Remapped | Perfect | NC_000005.10:g.(?_ 21498486)_(2152300 0_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,498,486 | 21,523,000 |
| essv57283 | Remapped | Perfect | NC_000005.10:g.(?_ 21499678)_(2152358 2_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,499,678 | 21,523,582 |
| essv44313 | Remapped | Perfect | NC_000005.10:g.(?_ 21500394)_(2152564 2_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,500,394 | 21,525,642 |
| essv37833 | Remapped | Perfect | NC_000005.10:g.(?_ 21504961)_(2152277 6_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,504,961 | 21,522,776 |
| essv56690 | Remapped | Perfect | NC_000005.9:g.(?_2 1498005)_(21523118 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 21,498,005 | 21,523,118 |
| essv78839 | Remapped | Perfect | NC_000005.9:g.(?_2 1498005)_(21523438 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 21,498,005 | 21,523,438 |
| essv62430 | Remapped | Perfect | NC_000005.9:g.(?_2 1498595)_(21523109 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 21,498,595 | 21,523,109 |
| essv57283 | Remapped | Perfect | NC_000005.9:g.(?_2 1499787)_(21523691 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 21,499,787 | 21,523,691 |
| essv44313 | Remapped | Perfect | NC_000005.9:g.(?_2 1500503)_(21525751 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 21,500,503 | 21,525,751 |
| essv37833 | Remapped | Perfect | NC_000005.9:g.(?_2 1505070)_(21522885 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 21,505,070 | 21,522,885 |
| essv56690 | Submitted genomic | NC_000005.8:g.(?_2 1533762)_(21558875 _?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 21,533,762 | 21,558,875 | ||
| essv78839 | Submitted genomic | NC_000005.8:g.(?_2 1533762)_(21559195 _?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 21,533,762 | 21,559,195 | ||
| essv62430 | Submitted genomic | NC_000005.8:g.(?_2 1534352)_(21558866 _?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 21,534,352 | 21,558,866 | ||
| essv57283 | Submitted genomic | NC_000005.8:g.(?_2 1535544)_(21559448 _?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 21,535,544 | 21,559,448 | ||
| essv44313 | Submitted genomic | NC_000005.8:g.(?_2 1536260)_(21561508 _?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 21,536,260 | 21,561,508 | ||
| essv37833 | Submitted genomic | NC_000005.8:g.(?_2 1540827)_(21558642 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 21,540,827 | 21,558,642 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv57283 | 2 | NA11993 | Oligo aCGH | Probe signal intensity | Pass |
| essv44313 | 2 | NA12489 | Oligo aCGH | Probe signal intensity | Pass |
| essv78839 | 2 | NA12749 | Oligo aCGH | Probe signal intensity | Pass |
| essv56690 | 2 | NA12776 | Oligo aCGH | Probe signal intensity | Pass |
| essv62430 | 2 | NA15510 | Oligo aCGH | Probe signal intensity | Pass |
| essv37833 | 2 | NA19257 | Oligo aCGH | Probe signal intensity | Pass |