esv8330
- Organism: Homo sapiens
- Study:estd19 (Ahn et al. 2009)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:17,315
- Publication(s):Ahn 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: 229 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 227 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 56 SVs from 13 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
esv8330 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 47,171,941 | 47,171,997 | 47,189,163 | 47,189,255 |
esv8330 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 45,249,307 | 45,249,363 | 45,266,529 | 45,266,621 |
esv8330 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 42,604,306 | 42,604,362 | 42,621,528 | 42,621,620 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
essv30771 | copy number loss | Sequencing | Read depth and paired-end mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv30771 | Remapped | Perfect | NC_000017.11:g.(47 171941_47171997)_( 47189163_47189255) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 47,171,941 | 47,171,997 | 47,189,163 | 47,189,255 |
essv30771 | Remapped | Perfect | NC_000017.10:g.(45 249307_45249363)_( 45266529_45266621) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 45,249,307 | 45,249,363 | 45,266,529 | 45,266,621 |
essv30771 | Submitted genomic | NC_000017.9:g.(426 04306_42604362)_(4 2621528_42621620)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 42,604,306 | 42,604,362 | 42,621,528 | 42,621,620 |