esv3429928
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:167
- Publication(s):1000 Genomes Project Consortium et al. 2010
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: 64 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 64 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 18 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3429928 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 146,716,119 (-168, +168) | 146,716,285 (-168, +168) |
| esv3429928 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 146,095,682 (-168, +168) | 146,095,848 (-168, +168) |
| esv3429928 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 146,075,875 (-168, +168) | 146,076,041 (-168, +168) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8671277 | insertion | SAMN00001696 | Sequencing | Paired-end mapping | 44,056 |
| essv8671278 | insertion | SAMN00001694 | Sequencing | Paired-end mapping | 29,487 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8671277 | Remapped | Perfect | NC_000005.10:g.(14 6715951_146716287) _(146716117_146716 453)ins145 | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 146,716,119 (-168, +168) | 146,716,285 (-168, +168) |
| essv8671278 | Remapped | Perfect | NC_000005.10:g.(14 6715951_146716287) _(146716117_146716 453)ins145 | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 146,716,119 (-168, +168) | 146,716,285 (-168, +168) |
| essv8671277 | Remapped | Perfect | NC_000005.9:g.(146 095514_146095850)_ (146095680_1460960 16)ins145 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 146,095,682 (-168, +168) | 146,095,848 (-168, +168) |
| essv8671278 | Remapped | Perfect | NC_000005.9:g.(146 095514_146095850)_ (146095680_1460960 16)ins145 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 146,095,682 (-168, +168) | 146,095,848 (-168, +168) |
| essv8671277 | Submitted genomic | NC_000005.8:g.(146 075707_146076043)_ (146075873_1460762 09)ins145 | NCBI36 (hg18) | NC_000005.8 | Chr5 | 146,075,875 (-168, +168) | 146,076,041 (-168, +168) | ||
| essv8671278 | Submitted genomic | NC_000005.8:g.(146 075707_146076043)_ (146075873_1460762 09)ins145 | NCBI36 (hg18) | NC_000005.8 | Chr5 | 146,075,875 (-168, +168) | 146,076,041 (-168, +168) |