esv2474923
- Organism: Homo sapiens
- Study:estd197 (McKernan 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:1
- Description:originalFile=Yoruban_small_indel.gff
- Publication(s):McKernan 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: 186 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 24 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 186 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 44 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2474923 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 131,792,298 | 131,792,298 |
| esv2474923 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187528.1 | Chr2|NT_18 7528.1 | 96,289 | 96,289 |
| esv2474923 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 132,549,871 | 132,549,871 |
| esv2474923 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 132,266,341 | 132,266,341 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5394337 | Remapped | Perfect | NT_187528.1:g.9628 9del | GRCh38.p12 | Second Pass | NT_187528.1 | Chr2|NT_18 7528.1 | 96,289 | 96,289 |
| essv5394337 | Remapped | Perfect | NC_000002.12:g.131 792298del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,792,298 | 131,792,298 |
| essv5394337 | Remapped | Perfect | NC_000002.11:g.132 549871del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 132,549,871 | 132,549,871 |
| essv5394337 | Submitted genomic | NC_000002.10:g.132 266341del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 132,266,341 | 132,266,341 |