esv3302898
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:tandem duplication
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,230
- 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: 101 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 20 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3302898 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 99,488,591 (-100, +100) | 99,497,820 (-100, +100) |
| esv3302898 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 99,207,435 (-100, +100) | 99,216,664 (-100, +100) |
| esv3302898 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 100,690,125 (-100, +100) | 100,699,354 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7732231 | tandem duplication | SAMN00001634 | Sequencing | Paired-end mapping | 14,025 |
| essv7733695 | tandem duplication | SAMN00001636 | Sequencing | Paired-end mapping | 14,366 |
| essv7734466 | tandem duplication | SAMN00001614 | Sequencing | Paired-end mapping | 10,121 |
| essv7735047 | tandem duplication | SAMN00001660 | Sequencing | Paired-end mapping | 13,045 |
| essv7735596 | tandem duplication | SAMN00001613 | Sequencing | Paired-end mapping | 15,037 |
| essv7737003 | tandem duplication | SAMN00001621 | Sequencing | Paired-end mapping | 15,382 |
| essv7738126 | tandem duplication | SAMN00001620 | Sequencing | Paired-end mapping | 9,873 |
| essv7738895 | tandem duplication | SAMN00001642 | Sequencing | Paired-end mapping | 13,338 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7732231 | Remapped | Perfect | NC_000003.12:g.(99 488492_99488692)_( 99497720_99497920) dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 99,488,492 | 99,488,692 | 99,497,720 | 99,497,920 |
| essv7733695 | Remapped | Perfect | NC_000003.12:g.(99 488492_99488692)_( 99497720_99497920) dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 99,488,492 | 99,488,692 | 99,497,720 | 99,497,920 |
| essv7734466 | Remapped | Perfect | NC_000003.12:g.(99 488492_99488692)_( 99497720_99497920) dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 99,488,492 | 99,488,692 | 99,497,720 | 99,497,920 |
| essv7735047 | Remapped | Perfect | NC_000003.12:g.(99 488492_99488692)_( 99497720_99497920) dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 99,488,492 | 99,488,692 | 99,497,720 | 99,497,920 |
| essv7735596 | Remapped | Perfect | NC_000003.12:g.(99 488492_99488692)_( 99497720_99497920) dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 99,488,492 | 99,488,692 | 99,497,720 | 99,497,920 |
| essv7737003 | Remapped | Perfect | NC_000003.12:g.(99 488492_99488692)_( 99497720_99497920) dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 99,488,492 | 99,488,692 | 99,497,720 | 99,497,920 |
| essv7738126 | Remapped | Perfect | NC_000003.12:g.(99 488492_99488692)_( 99497720_99497920) dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 99,488,492 | 99,488,692 | 99,497,720 | 99,497,920 |
| essv7738895 | Remapped | Perfect | NC_000003.12:g.(99 488492_99488692)_( 99497720_99497920) dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 99,488,492 | 99,488,692 | 99,497,720 | 99,497,920 |
| essv7732231 | Remapped | Perfect | NC_000003.11:g.(99 207336_99207536)_( 99216564_99216764) dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 99,207,336 | 99,207,536 | 99,216,564 | 99,216,764 |
| essv7733695 | Remapped | Perfect | NC_000003.11:g.(99 207336_99207536)_( 99216564_99216764) dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 99,207,336 | 99,207,536 | 99,216,564 | 99,216,764 |
| essv7734466 | Remapped | Perfect | NC_000003.11:g.(99 207336_99207536)_( 99216564_99216764) dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 99,207,336 | 99,207,536 | 99,216,564 | 99,216,764 |
| essv7735047 | Remapped | Perfect | NC_000003.11:g.(99 207336_99207536)_( 99216564_99216764) dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 99,207,336 | 99,207,536 | 99,216,564 | 99,216,764 |
| essv7735596 | Remapped | Perfect | NC_000003.11:g.(99 207336_99207536)_( 99216564_99216764) dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 99,207,336 | 99,207,536 | 99,216,564 | 99,216,764 |
| essv7737003 | Remapped | Perfect | NC_000003.11:g.(99 207336_99207536)_( 99216564_99216764) dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 99,207,336 | 99,207,536 | 99,216,564 | 99,216,764 |
| essv7738126 | Remapped | Perfect | NC_000003.11:g.(99 207336_99207536)_( 99216564_99216764) dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 99,207,336 | 99,207,536 | 99,216,564 | 99,216,764 |
| essv7738895 | Remapped | Perfect | NC_000003.11:g.(99 207336_99207536)_( 99216564_99216764) dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 99,207,336 | 99,207,536 | 99,216,564 | 99,216,764 |
| essv7732231 | Submitted genomic | NC_000003.10:g.(10 0690026_100690226) _(100699254_100699 454)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 100,690,026 | 100,690,226 | 100,699,254 | 100,699,454 | ||
| essv7733695 | Submitted genomic | NC_000003.10:g.(10 0690026_100690226) _(100699254_100699 454)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 100,690,026 | 100,690,226 | 100,699,254 | 100,699,454 | ||
| essv7734466 | Submitted genomic | NC_000003.10:g.(10 0690026_100690226) _(100699254_100699 454)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 100,690,026 | 100,690,226 | 100,699,254 | 100,699,454 | ||
| essv7735047 | Submitted genomic | NC_000003.10:g.(10 0690026_100690226) _(100699254_100699 454)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 100,690,026 | 100,690,226 | 100,699,254 | 100,699,454 | ||
| essv7735596 | Submitted genomic | NC_000003.10:g.(10 0690026_100690226) _(100699254_100699 454)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 100,690,026 | 100,690,226 | 100,699,254 | 100,699,454 | ||
| essv7737003 | Submitted genomic | NC_000003.10:g.(10 0690026_100690226) _(100699254_100699 454)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 100,690,026 | 100,690,226 | 100,699,254 | 100,699,454 | ||
| essv7738126 | Submitted genomic | NC_000003.10:g.(10 0690026_100690226) _(100699254_100699 454)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 100,690,026 | 100,690,226 | 100,699,254 | 100,699,454 | ||
| essv7738895 | Submitted genomic | NC_000003.10:g.(10 0690026_100690226) _(100699254_100699 454)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 100,690,026 | 100,690,226 | 100,699,254 | 100,699,454 |