esv3416759
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Fail
- Clinical Assertions: No
- Region Size:9,765
- 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: 235 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 235 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 145 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 | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3416759 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 40,027,174 (-110, +1990) | 40,036,938 (-1580, +120) |
| esv3416759 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 41,399,101 (-110, +1990) | 41,408,865 (-1580, +120) |
| esv3416759 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 40,320,971 (-110, +1990) | 40,330,735 (-1580, +120) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8809021 | inversion | SAMN00801888 | Sequencing | Paired-end mapping | 69,298 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8809021 | Remapped | Perfect | NC_000021.9:g.(400 27064_40029164)_(4 0035358_40037058)i nv7516 | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 40,027,174 (-110, +1990) | 40,036,938 (-1580, +120) |
| essv8809021 | Remapped | Perfect | NC_000021.8:g.(413 98991_41401091)_(4 1407285_41408985)i nv7516 | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 41,399,101 (-110, +1990) | 41,408,865 (-1580, +120) |
| essv8809021 | Submitted genomic | NC_000021.7:g.(403 20861_40322961)_(4 0329155_40330855)i nv7516 | NCBI36 (hg18) | NC_000021.7 | Chr21 | 40,320,971 (-110, +1990) | 40,330,735 (-1580, +120) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8809021 | 18 | SAMN00801888 | Oligo aCGH | Probe signal intensity | Fail |