esv3349698
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:147
- Publication(s):1000 Genomes Project Consortium et al. 2010
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: 88 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 88 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 34 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3349698 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 53,649,143 (-78, +76) | 53,649,289 (-78, +78) |
| esv3349698 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 53,683,055 (-78, +76) | 53,683,201 (-78, +78) |
| esv3349698 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 52,240,556 (-78, +76) | 52,240,702 (-78, +78) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8970221 | insertion | SAMN00001585 | Sequencing | Paired-end mapping | 11,247 |
| essv8970222 | insertion | SAMN00001608 | Sequencing | Paired-end mapping | 14,593 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8970221 | Remapped | Perfect | NC_000016.10:g.(53 649065_53649219)_( 53649211_53649367) ins222 | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 53,649,143 (-78, +76) | 53,649,289 (-78, +78) |
| essv8970222 | Remapped | Perfect | NC_000016.10:g.(53 649065_53649219)_( 53649211_53649367) ins222 | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 53,649,143 (-78, +76) | 53,649,289 (-78, +78) |
| essv8970221 | Remapped | Perfect | NC_000016.9:g.(536 82977_53683131)_(5 3683123_53683279)i ns222 | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 53,683,055 (-78, +76) | 53,683,201 (-78, +78) |
| essv8970222 | Remapped | Perfect | NC_000016.9:g.(536 82977_53683131)_(5 3683123_53683279)i ns222 | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 53,683,055 (-78, +76) | 53,683,201 (-78, +78) |
| essv8970221 | Submitted genomic | NC_000016.8:g.(522 40478_52240632)_(5 2240624_52240780)i ns222 | NCBI36 (hg18) | NC_000016.8 | Chr16 | 52,240,556 (-78, +76) | 52,240,702 (-78, +78) | ||
| essv8970222 | Submitted genomic | NC_000016.8:g.(522 40478_52240632)_(5 2240624_52240780)i ns222 | NCBI36 (hg18) | NC_000016.8 | Chr16 | 52,240,556 (-78, +76) | 52,240,702 (-78, +78) |