esv2965
- Organism: Homo sapiens
- Study:estd3 (Wang et al. 2008)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:656
- Publication(s):Wang et al. 2008
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: 305 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 305 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 181 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 | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
esv2965 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 26,001,832 | 26,002,487 |
esv2965 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 27,374,147 | 27,374,802 |
esv2965 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 26,296,018 | 26,296,673 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv25406 | inversion | YH | Sequencing | Read depth and paired-end mapping | 2,682 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
essv25406 | Remapped | Perfect | NC_000021.9:g.(260 01832_?)_(?_260024 87)inv | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 26,001,832 | 26,002,487 |
essv25406 | Remapped | Perfect | NC_000021.8:g.(273 74147_?)_(?_273748 02)inv | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 27,374,147 | 27,374,802 |
essv25406 | Submitted genomic | NC_000021.7:g.(262 96018_?)_(?_262966 73)inv | NCBI36 (hg18) | NC_000021.7 | Chr21 | 26,296,018 | 26,296,673 |