esv12624
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:5
- Validation:Yes
- Clinical Assertions: No
- Region Size:42,075
- 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: 412 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 412 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 155 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv12624 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 131,722,971 | 131,765,045 |
| esv12624 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 132,644,126 | 132,686,200 |
| esv12624 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 132,863,576 | 132,905,650 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv63340 | copy number loss | NA15510 | Oligo aCGH | Probe signal intensity | 1,307 |
| essv78398 | copy number loss | NA06985 | Oligo aCGH | Probe signal intensity | 1,144 |
| essv83193 | copy number gain | NA19190 | Oligo aCGH | Probe signal intensity | 1,600 |
| essv80431 | copy number loss | NA11995 | Oligo aCGH | Probe signal intensity | 1,228 |
| essv70893 | copy number gain | NA18916 | Oligo aCGH | Probe signal intensity | 1,538 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv63340 | Remapped | Perfect | NC_000004.12:g.(?_ 131722971)_(131764 965_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 131,722,971 | 131,764,965 |
| essv78398 | Remapped | Perfect | NC_000004.12:g.(?_ 131723070)_(131764 565_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 131,723,070 | 131,764,565 |
| essv83193 | Remapped | Perfect | NC_000004.12:g.(?_ 131723205)_(131764 820_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 131,723,205 | 131,764,820 |
| essv80431 | Remapped | Perfect | NC_000004.12:g.(?_ 131723205)_(131765 045_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 131,723,205 | 131,765,045 |
| essv70893 | Remapped | Perfect | NC_000004.12:g.(?_ 131723335)_(131763 125_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 131,723,335 | 131,763,125 |
| essv63340 | Remapped | Perfect | NC_000004.11:g.(?_ 132644126)_(132686 120_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 132,644,126 | 132,686,120 |
| essv78398 | Remapped | Perfect | NC_000004.11:g.(?_ 132644225)_(132685 720_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 132,644,225 | 132,685,720 |
| essv83193 | Remapped | Perfect | NC_000004.11:g.(?_ 132644360)_(132685 975_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 132,644,360 | 132,685,975 |
| essv80431 | Remapped | Perfect | NC_000004.11:g.(?_ 132644360)_(132686 200_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 132,644,360 | 132,686,200 |
| essv70893 | Remapped | Perfect | NC_000004.11:g.(?_ 132644490)_(132684 280_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 132,644,490 | 132,684,280 |
| essv63340 | Submitted genomic | NC_000004.10:g.(?_ 132863576)_(132905 570_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 132,863,576 | 132,905,570 | ||
| essv78398 | Submitted genomic | NC_000004.10:g.(?_ 132863675)_(132905 170_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 132,863,675 | 132,905,170 | ||
| essv83193 | Submitted genomic | NC_000004.10:g.(?_ 132863810)_(132905 425_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 132,863,810 | 132,905,425 | ||
| essv80431 | Submitted genomic | NC_000004.10:g.(?_ 132863810)_(132905 650_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 132,863,810 | 132,905,650 | ||
| essv70893 | Submitted genomic | NC_000004.10:g.(?_ 132863940)_(132903 730_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 132,863,940 | 132,903,730 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv78398 | 2 | NA06985 | Oligo aCGH | Probe signal intensity | Pass |
| essv80431 | 2 | NA11995 | Oligo aCGH | Probe signal intensity | Pass |
| essv63340 | 2 | NA15510 | Oligo aCGH | Probe signal intensity | Pass |
| essv70893 | 2 | NA18916 | Oligo aCGH | Probe signal intensity | Pass |
| essv83193 | 2 | NA19190 | Oligo aCGH | Probe signal intensity | Pass |