esv2614714
- Organism: Homo sapiens
- Study:estd197 (McKernan et al. 2009)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,552
- Description:originalFile=Yoruban_large_indels_8.4x.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: 512 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 62 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 517 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 275 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2614714 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 248,403,706 | 248,404,365 |
| esv2614714 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187646.1 | Chr1|NT_18 7646.1 | 52,020 | 54,571 |
| esv2614714 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 248,567,007 | 248,567,666 |
| esv2614714 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 246,633,630 | 246,634,289 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5248678 | Remapped | Pass | NT_187646.1:g.(520 20_?)_(?_54571)ins ? | GRCh38.p12 | Second Pass | NT_187646.1 | Chr1|NT_18 7646.1 | 52,020 | 54,571 |
| essv5248678 | Remapped | Perfect | NC_000001.11:g.(24 8403706_?)_(?_2484 04365)ins? | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,403,706 | 248,404,365 |
| essv5248678 | Remapped | Perfect | NC_000001.10:g.(24 8567007_?)_(?_2485 67666)ins? | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,567,007 | 248,567,666 |
| essv5248678 | Submitted genomic | NC_000001.9:g.(246 633630_?)_(?_24663 4289)ins? | NCBI36 (hg18) | NC_000001.9 | Chr1 | 246,633,630 | 246,634,289 |