esv7545
- 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:217
- 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: 335 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 38 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 335 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 183 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv7545 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 158,410,733 | 158,410,794 | 158,410,874 | 158,410,949 |
| esv7545 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187560.1 | Chr7|NT_18 7560.1 | 66,226 | 66,301 | 66,381 | 66,442 |
| esv7545 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 158,203,425 | 158,203,486 | 158,203,566 | 158,203,641 |
| esv7545 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 157,896,186 | 157,896,247 | 157,896,327 | 157,896,402 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv29986 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv29986 | Remapped | Perfect | NT_187560.1:g.(662 26_66301)_(66381_6 6442)dup | GRCh38.p12 | Second Pass | NT_187560.1 | Chr7|NT_18 7560.1 | 66,226 | 66,301 | 66,381 | 66,442 |
| essv29986 | Remapped | Perfect | NC_000007.14:g.(15 8410733_158410794) _(158410874_158410 949)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 158,410,733 | 158,410,794 | 158,410,874 | 158,410,949 |
| essv29986 | Remapped | Perfect | NC_000007.13:g.(15 8203425_158203486) _(158203566_158203 641)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 158,203,425 | 158,203,486 | 158,203,566 | 158,203,641 |
| essv29986 | Submitted genomic | NC_000007.12:g.(15 7896186_157896247) _(157896327_157896 402)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 157,896,186 | 157,896,247 | 157,896,327 | 157,896,402 |