esv3302809
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:tandem duplication
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:19
- Validation:Not tested
- Clinical Assertions: No
- Region Size:118
- 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: 71 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 12 SVs from 6 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3302809 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 23,314,663 (-100, +58) | 23,314,780 (-59, +100) |
| esv3302809 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 23,295,300 (-100, +58) | 23,295,417 (-59, +100) |
| esv3302809 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 23,243,300 (-100, +58) | 23,243,417 (-59, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7731867 | tandem duplication | SAMN00001649 | Sequencing | Paired-end mapping | 13,082 |
| essv7732719 | tandem duplication | SAMN00001632 | Sequencing | Paired-end mapping | 10,836 |
| essv7733117 | tandem duplication | SAMN00001580 | Sequencing | Paired-end mapping | 12,837 |
| essv7733141 | tandem duplication | SAMN00001594 | Sequencing | Paired-end mapping | 12,936 |
| essv7734591 | tandem duplication | SAMN00001656 | Sequencing | Paired-end mapping | 14,238 |
| essv7735137 | tandem duplication | SAMN00001638 | Sequencing | Paired-end mapping | 14,476 |
| essv7735775 | tandem duplication | SAMN00001678 | Sequencing | Paired-end mapping | 11,740 |
| essv7736159 | tandem duplication | SAMN00001663 | Sequencing | Paired-end mapping | 12,931 |
| essv7736690 | tandem duplication | SAMN00001615 | Sequencing | Paired-end mapping | 9,351 |
| essv7736825 | tandem duplication | SAMN00001618 | Sequencing | Paired-end mapping | 9,893 |
| essv7736939 | tandem duplication | SAMN00800266 | Sequencing | Paired-end mapping | 11,909 |
| essv7737448 | tandem duplication | SAMN00001673 | Sequencing | Paired-end mapping | 7,469 |
| essv7738141 | tandem duplication | SAMN00001620 | Sequencing | Paired-end mapping | 9,873 |
| essv7738322 | tandem duplication | SAMN00001529 | Sequencing | Paired-end mapping | 15,109 |
| essv7738752 | tandem duplication | SAMN00001596 | Sequencing | Paired-end mapping | 14,505 |
| essv7738884 | tandem duplication | SAMN00001642 | Sequencing | Paired-end mapping | 13,338 |
| essv7739015 | tandem duplication | SAMN00001598 | Sequencing | Paired-end mapping | 12,938 |
| essv7739099 | tandem duplication | SAMN00001665 | Sequencing | Paired-end mapping | 11,494 |
| essv7739279 | tandem duplication | SAMN00001534 | Sequencing | Paired-end mapping | 9,499 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7731867 | Remapped | Perfect | NC_000020.11:g.(23 314564_23314722)_( 23314721_23314880) dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 23,314,564 | 23,314,722 | 23,314,721 | 23,314,880 |
| essv7732719 | Remapped | Perfect | NC_000020.11:g.(23 314564_23314722)_( 23314721_23314880) dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 23,314,564 | 23,314,722 | 23,314,721 | 23,314,880 |
| essv7733117 | Remapped | Perfect | NC_000020.11:g.(23 314564_23314722)_( 23314721_23314880) dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 23,314,564 | 23,314,722 | 23,314,721 | 23,314,880 |
| essv7733141 | Remapped | Perfect | NC_000020.11:g.(23 314564_23314722)_( 23314721_23314880) dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 23,314,564 | 23,314,722 | 23,314,721 | 23,314,880 |
| essv7734591 | Remapped | Perfect | NC_000020.11:g.(23 314564_23314722)_( 23314721_23314880) dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 23,314,564 | 23,314,722 | 23,314,721 | 23,314,880 |
| essv7735137 | Remapped | Perfect | NC_000020.11:g.(23 314564_23314722)_( 23314721_23314880) dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 23,314,564 | 23,314,722 | 23,314,721 | 23,314,880 |
| essv7735775 | Remapped | Perfect | NC_000020.11:g.(23 314564_23314722)_( 23314721_23314880) dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 23,314,564 | 23,314,722 | 23,314,721 | 23,314,880 |
| essv7736159 | Remapped | Perfect | NC_000020.11:g.(23 314564_23314722)_( 23314721_23314880) dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 23,314,564 | 23,314,722 | 23,314,721 | 23,314,880 |
| essv7736690 | Remapped | Perfect | NC_000020.11:g.(23 314564_23314722)_( 23314721_23314880) dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 23,314,564 | 23,314,722 | 23,314,721 | 23,314,880 |
| essv7736825 | Remapped | Perfect | NC_000020.11:g.(23 314564_23314722)_( 23314721_23314880) dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 23,314,564 | 23,314,722 | 23,314,721 | 23,314,880 |
| essv7736939 | Remapped | Perfect | NC_000020.11:g.(23 314564_23314722)_( 23314721_23314880) dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 23,314,564 | 23,314,722 | 23,314,721 | 23,314,880 |
| essv7737448 | Remapped | Perfect | NC_000020.11:g.(23 314564_23314722)_( 23314721_23314880) dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 23,314,564 | 23,314,722 | 23,314,721 | 23,314,880 |
| essv7738141 | Remapped | Perfect | NC_000020.11:g.(23 314564_23314722)_( 23314721_23314880) dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 23,314,564 | 23,314,722 | 23,314,721 | 23,314,880 |
| essv7738322 | Remapped | Perfect | NC_000020.11:g.(23 314564_23314722)_( 23314721_23314880) dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 23,314,564 | 23,314,722 | 23,314,721 | 23,314,880 |
| essv7738752 | Remapped | Perfect | NC_000020.11:g.(23 314564_23314722)_( 23314721_23314880) dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 23,314,564 | 23,314,722 | 23,314,721 | 23,314,880 |
| essv7738884 | Remapped | Perfect | NC_000020.11:g.(23 314564_23314722)_( 23314721_23314880) dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 23,314,564 | 23,314,722 | 23,314,721 | 23,314,880 |
| essv7739015 | Remapped | Perfect | NC_000020.11:g.(23 314564_23314722)_( 23314721_23314880) dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 23,314,564 | 23,314,722 | 23,314,721 | 23,314,880 |
| essv7739099 | Remapped | Perfect | NC_000020.11:g.(23 314564_23314722)_( 23314721_23314880) dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 23,314,564 | 23,314,722 | 23,314,721 | 23,314,880 |
| essv7739279 | Remapped | Perfect | NC_000020.11:g.(23 314564_23314722)_( 23314721_23314880) dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 23,314,564 | 23,314,722 | 23,314,721 | 23,314,880 |
| essv7731867 | Remapped | Perfect | NC_000020.10:g.(23 295201_23295359)_( 23295358_23295517) dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 23,295,201 | 23,295,359 | 23,295,358 | 23,295,517 |
| essv7732719 | Remapped | Perfect | NC_000020.10:g.(23 295201_23295359)_( 23295358_23295517) dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 23,295,201 | 23,295,359 | 23,295,358 | 23,295,517 |
| essv7733117 | Remapped | Perfect | NC_000020.10:g.(23 295201_23295359)_( 23295358_23295517) dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 23,295,201 | 23,295,359 | 23,295,358 | 23,295,517 |
| essv7733141 | Remapped | Perfect | NC_000020.10:g.(23 295201_23295359)_( 23295358_23295517) dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 23,295,201 | 23,295,359 | 23,295,358 | 23,295,517 |
| essv7734591 | Remapped | Perfect | NC_000020.10:g.(23 295201_23295359)_( 23295358_23295517) dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 23,295,201 | 23,295,359 | 23,295,358 | 23,295,517 |
| essv7735137 | Remapped | Perfect | NC_000020.10:g.(23 295201_23295359)_( 23295358_23295517) dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 23,295,201 | 23,295,359 | 23,295,358 | 23,295,517 |
| essv7735775 | Remapped | Perfect | NC_000020.10:g.(23 295201_23295359)_( 23295358_23295517) dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 23,295,201 | 23,295,359 | 23,295,358 | 23,295,517 |
| essv7736159 | Remapped | Perfect | NC_000020.10:g.(23 295201_23295359)_( 23295358_23295517) dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 23,295,201 | 23,295,359 | 23,295,358 | 23,295,517 |
| essv7736690 | Remapped | Perfect | NC_000020.10:g.(23 295201_23295359)_( 23295358_23295517) dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 23,295,201 | 23,295,359 | 23,295,358 | 23,295,517 |
| essv7736825 | Remapped | Perfect | NC_000020.10:g.(23 295201_23295359)_( 23295358_23295517) dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 23,295,201 | 23,295,359 | 23,295,358 | 23,295,517 |
| essv7736939 | Remapped | Perfect | NC_000020.10:g.(23 295201_23295359)_( 23295358_23295517) dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 23,295,201 | 23,295,359 | 23,295,358 | 23,295,517 |
| essv7737448 | Remapped | Perfect | NC_000020.10:g.(23 295201_23295359)_( 23295358_23295517) dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 23,295,201 | 23,295,359 | 23,295,358 | 23,295,517 |
| essv7738141 | Remapped | Perfect | NC_000020.10:g.(23 295201_23295359)_( 23295358_23295517) dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 23,295,201 | 23,295,359 | 23,295,358 | 23,295,517 |
| essv7738322 | Remapped | Perfect | NC_000020.10:g.(23 295201_23295359)_( 23295358_23295517) dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 23,295,201 | 23,295,359 | 23,295,358 | 23,295,517 |
| essv7738752 | Remapped | Perfect | NC_000020.10:g.(23 295201_23295359)_( 23295358_23295517) dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 23,295,201 | 23,295,359 | 23,295,358 | 23,295,517 |
| essv7738884 | Remapped | Perfect | NC_000020.10:g.(23 295201_23295359)_( 23295358_23295517) dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 23,295,201 | 23,295,359 | 23,295,358 | 23,295,517 |
| essv7739015 | Remapped | Perfect | NC_000020.10:g.(23 295201_23295359)_( 23295358_23295517) dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 23,295,201 | 23,295,359 | 23,295,358 | 23,295,517 |
| essv7739099 | Remapped | Perfect | NC_000020.10:g.(23 295201_23295359)_( 23295358_23295517) dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 23,295,201 | 23,295,359 | 23,295,358 | 23,295,517 |
| essv7739279 | Remapped | Perfect | NC_000020.10:g.(23 295201_23295359)_( 23295358_23295517) dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 23,295,201 | 23,295,359 | 23,295,358 | 23,295,517 |
| essv7731867 | Submitted genomic | NC_000020.9:g.(232 43201_23243359)_(2 3243358_23243517)d up | NCBI36 (hg18) | NC_000020.9 | Chr20 | 23,243,201 | 23,243,359 | 23,243,358 | 23,243,517 | ||
| essv7732719 | Submitted genomic | NC_000020.9:g.(232 43201_23243359)_(2 3243358_23243517)d up | NCBI36 (hg18) | NC_000020.9 | Chr20 | 23,243,201 | 23,243,359 | 23,243,358 | 23,243,517 | ||
| essv7733117 | Submitted genomic | NC_000020.9:g.(232 43201_23243359)_(2 3243358_23243517)d up | NCBI36 (hg18) | NC_000020.9 | Chr20 | 23,243,201 | 23,243,359 | 23,243,358 | 23,243,517 | ||
| essv7733141 | Submitted genomic | NC_000020.9:g.(232 43201_23243359)_(2 3243358_23243517)d up | NCBI36 (hg18) | NC_000020.9 | Chr20 | 23,243,201 | 23,243,359 | 23,243,358 | 23,243,517 | ||
| essv7734591 | Submitted genomic | NC_000020.9:g.(232 43201_23243359)_(2 3243358_23243517)d up | NCBI36 (hg18) | NC_000020.9 | Chr20 | 23,243,201 | 23,243,359 | 23,243,358 | 23,243,517 | ||
| essv7735137 | Submitted genomic | NC_000020.9:g.(232 43201_23243359)_(2 3243358_23243517)d up | NCBI36 (hg18) | NC_000020.9 | Chr20 | 23,243,201 | 23,243,359 | 23,243,358 | 23,243,517 | ||
| essv7735775 | Submitted genomic | NC_000020.9:g.(232 43201_23243359)_(2 3243358_23243517)d up | NCBI36 (hg18) | NC_000020.9 | Chr20 | 23,243,201 | 23,243,359 | 23,243,358 | 23,243,517 | ||
| essv7736159 | Submitted genomic | NC_000020.9:g.(232 43201_23243359)_(2 3243358_23243517)d up | NCBI36 (hg18) | NC_000020.9 | Chr20 | 23,243,201 | 23,243,359 | 23,243,358 | 23,243,517 | ||
| essv7736690 | Submitted genomic | NC_000020.9:g.(232 43201_23243359)_(2 3243358_23243517)d up | NCBI36 (hg18) | NC_000020.9 | Chr20 | 23,243,201 | 23,243,359 | 23,243,358 | 23,243,517 | ||
| essv7736825 | Submitted genomic | NC_000020.9:g.(232 43201_23243359)_(2 3243358_23243517)d up | NCBI36 (hg18) | NC_000020.9 | Chr20 | 23,243,201 | 23,243,359 | 23,243,358 | 23,243,517 | ||
| essv7736939 | Submitted genomic | NC_000020.9:g.(232 43201_23243359)_(2 3243358_23243517)d up | NCBI36 (hg18) | NC_000020.9 | Chr20 | 23,243,201 | 23,243,359 | 23,243,358 | 23,243,517 | ||
| essv7737448 | Submitted genomic | NC_000020.9:g.(232 43201_23243359)_(2 3243358_23243517)d up | NCBI36 (hg18) | NC_000020.9 | Chr20 | 23,243,201 | 23,243,359 | 23,243,358 | 23,243,517 | ||
| essv7738141 | Submitted genomic | NC_000020.9:g.(232 43201_23243359)_(2 3243358_23243517)d up | NCBI36 (hg18) | NC_000020.9 | Chr20 | 23,243,201 | 23,243,359 | 23,243,358 | 23,243,517 | ||
| essv7738322 | Submitted genomic | NC_000020.9:g.(232 43201_23243359)_(2 3243358_23243517)d up | NCBI36 (hg18) | NC_000020.9 | Chr20 | 23,243,201 | 23,243,359 | 23,243,358 | 23,243,517 | ||
| essv7738752 | Submitted genomic | NC_000020.9:g.(232 43201_23243359)_(2 3243358_23243517)d up | NCBI36 (hg18) | NC_000020.9 | Chr20 | 23,243,201 | 23,243,359 | 23,243,358 | 23,243,517 | ||
| essv7738884 | Submitted genomic | NC_000020.9:g.(232 43201_23243359)_(2 3243358_23243517)d up | NCBI36 (hg18) | NC_000020.9 | Chr20 | 23,243,201 | 23,243,359 | 23,243,358 | 23,243,517 | ||
| essv7739015 | Submitted genomic | NC_000020.9:g.(232 43201_23243359)_(2 3243358_23243517)d up | NCBI36 (hg18) | NC_000020.9 | Chr20 | 23,243,201 | 23,243,359 | 23,243,358 | 23,243,517 | ||
| essv7739099 | Submitted genomic | NC_000020.9:g.(232 43201_23243359)_(2 3243358_23243517)d up | NCBI36 (hg18) | NC_000020.9 | Chr20 | 23,243,201 | 23,243,359 | 23,243,358 | 23,243,517 | ||
| essv7739279 | Submitted genomic | NC_000020.9:g.(232 43201_23243359)_(2 3243358_23243517)d up | NCBI36 (hg18) | NC_000020.9 | Chr20 | 23,243,201 | 23,243,359 | 23,243,358 | 23,243,517 |