esv2524854
- 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:1,460
- 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: 367 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 146 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 367 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 175 SVs from 15 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 |
---|---|---|---|---|---|---|---|---|---|
esv2524854 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 10,149,696 | 10,150,137 |
esv2524854 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 3,197,257 | 3,198,716 |
esv2524854 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 10,007,206 | 10,007,647 |
esv2524854 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 10,044,616 | 10,045,057 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
essv5263905 | Remapped | Pass | NW_018654717.1:g.( 3197257_?)_(?_3198 716)ins? | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 3,197,257 | 3,198,716 |
essv5263905 | Remapped | Perfect | NC_000008.11:g.(10 149696_?)_(?_10150 137)ins? | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 10,149,696 | 10,150,137 |
essv5263905 | Remapped | Perfect | NC_000008.10:g.(10 007206_?)_(?_10007 647)ins? | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 10,007,206 | 10,007,647 |
essv5263905 | Submitted genomic | NC_000008.9:g.(100 44616_?)_(?_100450 57)ins? | NCBI36 (hg18) | NC_000008.9 | Chr8 | 10,044,616 | 10,045,057 |