esv6206
- 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:222
- 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: 238 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 238 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 159 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv6206 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 109,282 | 109,345 | 109,439 | 109,503 |
| esv6206 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 109,282 | 109,345 | 109,439 | 109,503 |
| esv6206 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 99,282 | 99,345 | 99,439 | 99,503 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv28647 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv28647 | Remapped | Perfect | NC_000018.10:g.(10 9282_109345)_(1094 39_109503)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 109,282 | 109,345 | 109,439 | 109,503 |
| essv28647 | Remapped | Perfect | NC_000018.9:g.(109 282_109345)_(10943 9_109503)dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 109,282 | 109,345 | 109,439 | 109,503 |
| essv28647 | Submitted genomic | NC_000018.8:g.(992 82_99345)_(99439_9 9503)dup | NCBI36 (hg18) | NC_000018.8 | Chr18 | 99,282 | 99,345 | 99,439 | 99,503 |