esv2529150
- 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:1,557
- 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: 400 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 40 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 399 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 211 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2529150 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 1,287,613 | 1,289,169 |
| esv2529150 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187565.1 | Chr8|NT_18 7565.1 | 6,829 | 8,385 |
| esv2529150 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 1,236,996 | 1,237,432 |
| esv2529150 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 1,224,403 | 1,224,839 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5248021 | Remapped | Pass | NT_187565.1:g.(682 9_?)_(?_8385)ins? | GRCh38.p12 | Second Pass | NT_187565.1 | Chr8|NT_18 7565.1 | 6,829 | 8,385 |
| essv5248021 | Remapped | Pass | NC_000008.11:g.(12 87613_?)_(?_128916 9)ins? | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 1,287,613 | 1,289,169 |
| essv5248021 | Remapped | Perfect | NC_000008.10:g.(12 36996_?)_(?_123743 2)ins? | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 1,236,996 | 1,237,432 |
| essv5248021 | Submitted genomic | NC_000008.9:g.(122 4403_?)_(?_1224839 )ins? | NCBI36 (hg18) | NC_000008.9 | Chr8 | 1,224,403 | 1,224,839 |