esv2445305
- 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:1,512
- 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: 212 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 12 SVs from 8 studies. See in: genome view
Overlapping variant regions from other studies: 212 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2445305 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 144,669,083 | 144,669,612 |
| esv2445305 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187569.1 | Chr8|NT_18 7569.1 | 40,334 | 41,845 |
| esv2445305 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 145,894,468 | 145,894,997 |
| esv2445305 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 145,865,276 | 145,865,805 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5317055 | Remapped | Pass | NT_187569.1:g.(403 34_?)_(?_41845)ins ? | GRCh38.p12 | Second Pass | NT_187569.1 | Chr8|NT_18 7569.1 | 40,334 | 41,845 |
| essv5317055 | Remapped | Perfect | NC_000008.11:g.(14 4669083_?)_(?_1446 69612)ins? | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 144,669,083 | 144,669,612 |
| essv5317055 | Remapped | Perfect | NC_000008.10:g.(14 5894468_?)_(?_1458 94997)ins? | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 145,894,468 | 145,894,997 |
| essv5317055 | Submitted genomic | NC_000008.9:g.(145 865276_?)_(?_14586 5805)ins? | NCBI36 (hg18) | NC_000008.9 | Chr8 | 145,865,276 | 145,865,805 |