esv5759
- 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:218
- 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: 326 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 32 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 326 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 182 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv5759 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 158,410,895 | 158,410,950 | 158,411,050 | 158,411,112 |
| esv5759 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187560.1 | Chr7|NT_18 7560.1 | 66,063 | 66,125 | 66,225 | 66,280 |
| esv5759 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 158,203,587 | 158,203,642 | 158,203,742 | 158,203,804 |
| esv5759 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 157,896,348 | 157,896,403 | 157,896,503 | 157,896,565 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv28200 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv28200 | Remapped | Perfect | NT_187560.1:g.(660 63_66125)_(66225_6 6280)dup | GRCh38.p12 | Second Pass | NT_187560.1 | Chr7|NT_18 7560.1 | 66,063 | 66,125 | 66,225 | 66,280 |
| essv28200 | Remapped | Perfect | NC_000007.14:g.(15 8410895_158410950) _(158411050_158411 112)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 158,410,895 | 158,410,950 | 158,411,050 | 158,411,112 |
| essv28200 | Remapped | Perfect | NC_000007.13:g.(15 8203587_158203642) _(158203742_158203 804)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 158,203,587 | 158,203,642 | 158,203,742 | 158,203,804 |
| essv28200 | Submitted genomic | NC_000007.12:g.(15 7896348_157896403) _(157896503_157896 565)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 157,896,348 | 157,896,403 | 157,896,503 | 157,896,565 |