esv2531481
- 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:3,243
- 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: 427 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 25 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 427 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 209 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 | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2531481 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 801,707 | 802,654 |
| esv2531481 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187572.1 | Chr8|NT_18 7572.1 | 83,368 | 86,610 |
| esv2531481 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 751,707 | 752,654 |
| esv2531481 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 741,707 | 742,654 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5172702 | Remapped | Pass | NT_187572.1:g.(833 68_?)_(?_86610)ins ? | GRCh38.p12 | Second Pass | NT_187572.1 | Chr8|NT_18 7572.1 | 83,368 | 86,610 |
| essv5172702 | Remapped | Perfect | NC_000008.11:g.(80 1707_?)_(?_802654) ins? | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 801,707 | 802,654 |
| essv5172702 | Remapped | Perfect | NC_000008.10:g.(75 1707_?)_(?_752654) ins? | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 751,707 | 752,654 |
| essv5172702 | Submitted genomic | NC_000008.9:g.(741 707_?)_(?_742654)i ns? | NCBI36 (hg18) | NC_000008.9 | Chr8 | 741,707 | 742,654 |