esv2489629
- Organism: Homo sapiens
- Study:estd197 (McKernan et al. 2009)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,199
- Description:originalFile=Yoruban_large_indels_8.4x.gff
- Publication(s):McKernan et al. 2009
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: 129 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 129 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 27 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2489629 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 75,032,271 | 75,033,469 |
| esv2489629 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 75,498,974 | 75,500,172 |
| esv2489629 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 74,568,727 | 74,569,925 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5197626 | Remapped | Perfect | NC_000014.9:g.(750 32271_?)_(?_750334 69)ins? | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 75,032,271 | 75,033,469 |
| essv5197626 | Remapped | Perfect | NC_000014.8:g.(754 98974_?)_(?_755001 72)ins? | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 75,498,974 | 75,500,172 |
| essv5197626 | Submitted genomic | NC_000014.7:g.(745 68727_?)_(?_745699 25)ins? | NCBI36 (hg18) | NC_000014.7 | Chr14 | 74,568,727 | 74,569,925 |