esv3693271
- Organism: Homo sapiens
- Study:estd221 (Palta et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:34,847
- Publication(s):Palta et al. 2015
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: 1130 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1130 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 361 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3693271 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 40,843,827 | 40,878,673 |
| esv3693271 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 41,349,732 | 41,384,578 |
| esv3693271 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 46,041,572 | 46,076,418 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| essv16507382 | copy number gain | NA19127 | SNP array | Probe signal intensity | Healthy individuals | 3 | 22 |
| essv16508757 | copy number gain | NA19129 | SNP array | Probe signal intensity | Healthy individuals | 3 | 18 |
| essv16507539 | copy number loss | NA18516 | SNP array | Probe signal intensity | Healthy individuals | 1 | 20 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16507382 | Remapped | Perfect | NC_000019.10:g.(?_ 40843827)_(4086657 0_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 40,843,827 | 40,866,570 |
| essv16508757 | Remapped | Perfect | NC_000019.10:g.(?_ 40848628)_(4086657 0_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 40,848,628 | 40,866,570 |
| essv16507539 | Remapped | Perfect | NC_000019.10:g.(?_ 40856268)_(4087867 3_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 40,856,268 | 40,878,673 |
| essv16507382 | Remapped | Perfect | NC_000019.9:g.(?_4 1349732)_(41372475 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 41,349,732 | 41,372,475 |
| essv16508757 | Remapped | Perfect | NC_000019.9:g.(?_4 1354533)_(41372475 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 41,354,533 | 41,372,475 |
| essv16507539 | Remapped | Perfect | NC_000019.9:g.(?_4 1362173)_(41384578 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 41,362,173 | 41,384,578 |
| essv16507382 | Submitted genomic | NC_000019.8:g.(?_4 6041572)_(46064315 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 46,041,572 | 46,064,315 | ||
| essv16508757 | Submitted genomic | NC_000019.8:g.(?_4 6046373)_(46064315 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 46,046,373 | 46,064,315 | ||
| essv16507539 | Submitted genomic | NC_000019.8:g.(?_4 6054013)_(46076418 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 46,054,013 | 46,076,418 |