esv3401189
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:164
- 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: 66 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 66 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 12 SVs from 6 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3401189 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 59,869,047 (-83, +83) | 59,869,210 (-83, +83) |
| esv3401189 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 60,335,765 (-83, +83) | 60,335,928 (-83, +83) |
| esv3401189 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 59,405,518 (-83, +83) | 59,405,681 (-83, +83) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8966505 | insertion | SAMN00001623 | Sequencing | Paired-end mapping | 10,870 |
| essv8966506 | insertion | SAMN00801237 | Sequencing | Paired-end mapping | 9,493 |
| essv8966507 | insertion | SAMN00801031 | Sequencing | Paired-end mapping | 9,208 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8966505 | Remapped | Perfect | NC_000014.9:g.(598 68964_59869130)_(5 9869127_59869293)i ns289 | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 59,869,047 (-83, +83) | 59,869,210 (-83, +83) |
| essv8966506 | Remapped | Perfect | NC_000014.9:g.(598 68964_59869130)_(5 9869127_59869293)i ns289 | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 59,869,047 (-83, +83) | 59,869,210 (-83, +83) |
| essv8966507 | Remapped | Perfect | NC_000014.9:g.(598 68964_59869130)_(5 9869127_59869293)i ns289 | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 59,869,047 (-83, +83) | 59,869,210 (-83, +83) |
| essv8966505 | Remapped | Perfect | NC_000014.8:g.(603 35682_60335848)_(6 0335845_60336011)i ns289 | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 60,335,765 (-83, +83) | 60,335,928 (-83, +83) |
| essv8966506 | Remapped | Perfect | NC_000014.8:g.(603 35682_60335848)_(6 0335845_60336011)i ns289 | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 60,335,765 (-83, +83) | 60,335,928 (-83, +83) |
| essv8966507 | Remapped | Perfect | NC_000014.8:g.(603 35682_60335848)_(6 0335845_60336011)i ns289 | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 60,335,765 (-83, +83) | 60,335,928 (-83, +83) |
| essv8966505 | Submitted genomic | NC_000014.7:g.(594 05435_59405601)_(5 9405598_59405764)i ns289 | NCBI36 (hg18) | NC_000014.7 | Chr14 | 59,405,518 (-83, +83) | 59,405,681 (-83, +83) | ||
| essv8966506 | Submitted genomic | NC_000014.7:g.(594 05435_59405601)_(5 9405598_59405764)i ns289 | NCBI36 (hg18) | NC_000014.7 | Chr14 | 59,405,518 (-83, +83) | 59,405,681 (-83, +83) | ||
| essv8966507 | Submitted genomic | NC_000014.7:g.(594 05435_59405601)_(5 9405598_59405764)i ns289 | NCBI36 (hg18) | NC_000014.7 | Chr14 | 59,405,518 (-83, +83) | 59,405,681 (-83, +83) |