esv2076042
- Organism: Homo sapiens
- Study:estd194 (Bentley et al. 2008)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,648
- Publication(s):Bentley et al. 2008
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: 946 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 946 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 561 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2076042 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 78,337,551 | 78,337,742 | 78,351,001 | 78,351,198 |
| esv2076042 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 78,371,448 | 78,371,639 | 78,384,898 | 78,385,095 |
| esv2076042 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 76,928,949 | 76,929,140 | 76,942,399 | 76,942,596 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv4720275 | Remapped | Perfect | NC_000016.10:g.(78 337551_78337742)_( 78351001_78351198) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,337,551 | 78,337,742 | 78,351,001 | 78,351,198 |
| essv4720275 | Remapped | Perfect | NC_000016.9:g.(783 71448_78371639)_(7 8384898_78385095)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,371,448 | 78,371,639 | 78,384,898 | 78,385,095 |
| essv4720275 | Submitted genomic | NC_000016.8:g.(769 28949_76929140)_(7 6942399_76942596)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 76,928,949 | 76,929,140 | 76,942,399 | 76,942,596 |