esv3693007
- 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:21,387
- 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: 338 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 338 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 104 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3693007 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 121,308,320 | 121,329,706 |
| esv3693007 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 122,320,560 | 122,341,946 |
| esv3693007 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 122,389,741 | 122,411,127 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| essv16507077 | copy number gain | NA19201 | SNP array | Probe signal intensity | Healthy individuals | 3 | 38 |
| essv16509190 | copy number gain | NA19154 | SNP array | Probe signal intensity | Healthy individuals | 3 | 15 |
| essv16508575 | copy number gain | NA19153 | SNP array | Probe signal intensity | Healthy individuals | 3 | 16 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16507077 | Remapped | Perfect | NC_000008.11:g.(?_ 121308320)_(121329 706_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 121,308,320 | 121,329,706 |
| essv16509190 | Remapped | Perfect | NC_000008.11:g.(?_ 121308320)_(121329 706_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 121,308,320 | 121,329,706 |
| essv16508575 | Remapped | Perfect | NC_000008.11:g.(?_ 121314683)_(121329 706_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 121,314,683 | 121,329,706 |
| essv16507077 | Remapped | Perfect | NC_000008.10:g.(?_ 122320560)_(122341 946_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 122,320,560 | 122,341,946 |
| essv16509190 | Remapped | Perfect | NC_000008.10:g.(?_ 122320560)_(122341 946_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 122,320,560 | 122,341,946 |
| essv16508575 | Remapped | Perfect | NC_000008.10:g.(?_ 122326923)_(122341 946_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 122,326,923 | 122,341,946 |
| essv16507077 | Submitted genomic | NC_000008.9:g.(?_1 22389741)_(1224111 27_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 122,389,741 | 122,411,127 | ||
| essv16509190 | Submitted genomic | NC_000008.9:g.(?_1 22389741)_(1224111 27_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 122,389,741 | 122,411,127 | ||
| essv16508575 | Submitted genomic | NC_000008.9:g.(?_1 22396104)_(1224111 27_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 122,396,104 | 122,411,127 |