esv3326850
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:113
- 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: 82 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 2 SVs from 2 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3326850 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 71,618,821 (-113, +113) | 71,618,933 (-115, +113) |
| esv3326850 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187615.1 | Chr17|NT_1 87615.1 | 34,304 (-113, +113) | 34,416 (-115, +113) |
| esv3326850 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 69,614,962 (-113, +113) | 69,615,074 (-115, +113) |
| esv3326850 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 67,126,557 (-113, +113) | 67,126,669 (-115, +113) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8972250 | insertion | SAMN00001635 | Sequencing | Paired-end mapping | 14,152 |
| essv8972251 | insertion | SAMN00797406 | Sequencing | Paired-end mapping | 9,724 |
| essv8972252 | insertion | SAMN00001592 | Sequencing | Paired-end mapping | 12,716 |
| essv8972253 | insertion | SAMN00800835 | Sequencing | Paired-end mapping | 10,547 |
| essv8972254 | insertion | SAMN00001579 | Sequencing | Paired-end mapping | 10,322 |
| essv8972255 | insertion | SAMN00001667 | Sequencing | Paired-end mapping | 12,201 |
| essv8972256 | insertion | SAMN00800945 | Sequencing | Paired-end mapping | 6,568 |
| essv8972257 | insertion | SAMN00001640 | Sequencing | Paired-end mapping | 13,740 |
| essv8972258 | insertion | SAMN00001668 | Sequencing | Paired-end mapping | 11,562 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8972250 | Remapped | Perfect | NT_187615.1:g.(341 91_34417)_(34301_3 4529)ins144 | GRCh38.p12 | Second Pass | NT_187615.1 | Chr17|NT_1 87615.1 | 34,304 (-113, +113) | 34,416 (-115, +113) |
| essv8972251 | Remapped | Perfect | NT_187615.1:g.(341 91_34417)_(34301_3 4529)ins144 | GRCh38.p12 | Second Pass | NT_187615.1 | Chr17|NT_1 87615.1 | 34,304 (-113, +113) | 34,416 (-115, +113) |
| essv8972252 | Remapped | Perfect | NT_187615.1:g.(341 91_34417)_(34301_3 4529)ins144 | GRCh38.p12 | Second Pass | NT_187615.1 | Chr17|NT_1 87615.1 | 34,304 (-113, +113) | 34,416 (-115, +113) |
| essv8972253 | Remapped | Perfect | NT_187615.1:g.(341 91_34417)_(34301_3 4529)ins144 | GRCh38.p12 | Second Pass | NT_187615.1 | Chr17|NT_1 87615.1 | 34,304 (-113, +113) | 34,416 (-115, +113) |
| essv8972254 | Remapped | Perfect | NT_187615.1:g.(341 91_34417)_(34301_3 4529)ins144 | GRCh38.p12 | Second Pass | NT_187615.1 | Chr17|NT_1 87615.1 | 34,304 (-113, +113) | 34,416 (-115, +113) |
| essv8972255 | Remapped | Perfect | NT_187615.1:g.(341 91_34417)_(34301_3 4529)ins144 | GRCh38.p12 | Second Pass | NT_187615.1 | Chr17|NT_1 87615.1 | 34,304 (-113, +113) | 34,416 (-115, +113) |
| essv8972256 | Remapped | Perfect | NT_187615.1:g.(341 91_34417)_(34301_3 4529)ins144 | GRCh38.p12 | Second Pass | NT_187615.1 | Chr17|NT_1 87615.1 | 34,304 (-113, +113) | 34,416 (-115, +113) |
| essv8972257 | Remapped | Perfect | NT_187615.1:g.(341 91_34417)_(34301_3 4529)ins144 | GRCh38.p12 | Second Pass | NT_187615.1 | Chr17|NT_1 87615.1 | 34,304 (-113, +113) | 34,416 (-115, +113) |
| essv8972258 | Remapped | Perfect | NT_187615.1:g.(341 91_34417)_(34301_3 4529)ins144 | GRCh38.p12 | Second Pass | NT_187615.1 | Chr17|NT_1 87615.1 | 34,304 (-113, +113) | 34,416 (-115, +113) |
| essv8972250 | Remapped | Perfect | NC_000017.11:g.(71 618708_71618934)_( 71618818_71619046) ins144 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 71,618,821 (-113, +113) | 71,618,933 (-115, +113) |
| essv8972251 | Remapped | Perfect | NC_000017.11:g.(71 618708_71618934)_( 71618818_71619046) ins144 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 71,618,821 (-113, +113) | 71,618,933 (-115, +113) |
| essv8972252 | Remapped | Perfect | NC_000017.11:g.(71 618708_71618934)_( 71618818_71619046) ins144 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 71,618,821 (-113, +113) | 71,618,933 (-115, +113) |
| essv8972253 | Remapped | Perfect | NC_000017.11:g.(71 618708_71618934)_( 71618818_71619046) ins144 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 71,618,821 (-113, +113) | 71,618,933 (-115, +113) |
| essv8972254 | Remapped | Perfect | NC_000017.11:g.(71 618708_71618934)_( 71618818_71619046) ins144 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 71,618,821 (-113, +113) | 71,618,933 (-115, +113) |
| essv8972255 | Remapped | Perfect | NC_000017.11:g.(71 618708_71618934)_( 71618818_71619046) ins144 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 71,618,821 (-113, +113) | 71,618,933 (-115, +113) |
| essv8972256 | Remapped | Perfect | NC_000017.11:g.(71 618708_71618934)_( 71618818_71619046) ins144 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 71,618,821 (-113, +113) | 71,618,933 (-115, +113) |
| essv8972257 | Remapped | Perfect | NC_000017.11:g.(71 618708_71618934)_( 71618818_71619046) ins144 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 71,618,821 (-113, +113) | 71,618,933 (-115, +113) |
| essv8972258 | Remapped | Perfect | NC_000017.11:g.(71 618708_71618934)_( 71618818_71619046) ins144 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 71,618,821 (-113, +113) | 71,618,933 (-115, +113) |
| essv8972250 | Remapped | Perfect | NC_000017.10:g.(69 614849_69615075)_( 69614959_69615187) ins144 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 69,614,962 (-113, +113) | 69,615,074 (-115, +113) |
| essv8972251 | Remapped | Perfect | NC_000017.10:g.(69 614849_69615075)_( 69614959_69615187) ins144 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 69,614,962 (-113, +113) | 69,615,074 (-115, +113) |
| essv8972252 | Remapped | Perfect | NC_000017.10:g.(69 614849_69615075)_( 69614959_69615187) ins144 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 69,614,962 (-113, +113) | 69,615,074 (-115, +113) |
| essv8972253 | Remapped | Perfect | NC_000017.10:g.(69 614849_69615075)_( 69614959_69615187) ins144 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 69,614,962 (-113, +113) | 69,615,074 (-115, +113) |
| essv8972254 | Remapped | Perfect | NC_000017.10:g.(69 614849_69615075)_( 69614959_69615187) ins144 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 69,614,962 (-113, +113) | 69,615,074 (-115, +113) |
| essv8972255 | Remapped | Perfect | NC_000017.10:g.(69 614849_69615075)_( 69614959_69615187) ins144 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 69,614,962 (-113, +113) | 69,615,074 (-115, +113) |
| essv8972256 | Remapped | Perfect | NC_000017.10:g.(69 614849_69615075)_( 69614959_69615187) ins144 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 69,614,962 (-113, +113) | 69,615,074 (-115, +113) |
| essv8972257 | Remapped | Perfect | NC_000017.10:g.(69 614849_69615075)_( 69614959_69615187) ins144 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 69,614,962 (-113, +113) | 69,615,074 (-115, +113) |
| essv8972258 | Remapped | Perfect | NC_000017.10:g.(69 614849_69615075)_( 69614959_69615187) ins144 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 69,614,962 (-113, +113) | 69,615,074 (-115, +113) |
| essv8972250 | Submitted genomic | NC_000017.9:g.(671 26444_67126670)_(6 7126554_67126782)i ns144 | NCBI36 (hg18) | NC_000017.9 | Chr17 | 67,126,557 (-113, +113) | 67,126,669 (-115, +113) | ||
| essv8972251 | Submitted genomic | NC_000017.9:g.(671 26444_67126670)_(6 7126554_67126782)i ns144 | NCBI36 (hg18) | NC_000017.9 | Chr17 | 67,126,557 (-113, +113) | 67,126,669 (-115, +113) | ||
| essv8972252 | Submitted genomic | NC_000017.9:g.(671 26444_67126670)_(6 7126554_67126782)i ns144 | NCBI36 (hg18) | NC_000017.9 | Chr17 | 67,126,557 (-113, +113) | 67,126,669 (-115, +113) | ||
| essv8972253 | Submitted genomic | NC_000017.9:g.(671 26444_67126670)_(6 7126554_67126782)i ns144 | NCBI36 (hg18) | NC_000017.9 | Chr17 | 67,126,557 (-113, +113) | 67,126,669 (-115, +113) | ||
| essv8972254 | Submitted genomic | NC_000017.9:g.(671 26444_67126670)_(6 7126554_67126782)i ns144 | NCBI36 (hg18) | NC_000017.9 | Chr17 | 67,126,557 (-113, +113) | 67,126,669 (-115, +113) | ||
| essv8972255 | Submitted genomic | NC_000017.9:g.(671 26444_67126670)_(6 7126554_67126782)i ns144 | NCBI36 (hg18) | NC_000017.9 | Chr17 | 67,126,557 (-113, +113) | 67,126,669 (-115, +113) | ||
| essv8972256 | Submitted genomic | NC_000017.9:g.(671 26444_67126670)_(6 7126554_67126782)i ns144 | NCBI36 (hg18) | NC_000017.9 | Chr17 | 67,126,557 (-113, +113) | 67,126,669 (-115, +113) | ||
| essv8972257 | Submitted genomic | NC_000017.9:g.(671 26444_67126670)_(6 7126554_67126782)i ns144 | NCBI36 (hg18) | NC_000017.9 | Chr17 | 67,126,557 (-113, +113) | 67,126,669 (-115, +113) | ||
| essv8972258 | Submitted genomic | NC_000017.9:g.(671 26444_67126670)_(6 7126554_67126782)i ns144 | NCBI36 (hg18) | NC_000017.9 | Chr17 | 67,126,557 (-113, +113) | 67,126,669 (-115, +113) |