esv9030
- 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:216
- 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: 135 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 135 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 48 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv9030 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 158,262,865 | 158,262,923 | 158,263,026 | 158,263,080 |
| esv9030 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 158,683,897 | 158,683,955 | 158,684,058 | 158,684,112 |
| esv9030 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 158,603,885 | 158,603,943 | 158,604,046 | 158,604,100 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv31471 | copy number gain | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv31471 | Remapped | Perfect | NC_000006.12:g.(15 8262865_158262923) _(158263026_158263 080)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 158,262,865 | 158,262,923 | 158,263,026 | 158,263,080 |
| essv31471 | Remapped | Perfect | NC_000006.11:g.(15 8683897_158683955) _(158684058_158684 112)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 158,683,897 | 158,683,955 | 158,684,058 | 158,684,112 |
| essv31471 | Submitted genomic | NC_000006.10:g.(15 8603885_158603943) _(158604046_158604 100)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 158,603,885 | 158,603,943 | 158,604,046 | 158,604,100 |