esv3302868
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:tandem duplication
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:17,281
- 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: 218 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 218 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3302868 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 227,376,393 (-100, +100) | 227,393,673 (-100, +100) |
| esv3302868 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 228,241,109 (-100, +100) | 228,258,389 (-100, +100) |
| esv3302868 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 227,949,353 (-100, +100) | 227,966,633 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7732797 | tandem duplication | SAMN00801680 | Sequencing | Paired-end mapping | 19,937 |
| essv7733226 | tandem duplication | SAMN00801051 | Sequencing | Paired-end mapping | 14,990 |
| essv7733321 | tandem duplication | SAMN00001525 | Sequencing | Paired-end mapping | 19,957 |
| essv7734245 | tandem duplication | SAMN00801682 | Sequencing | Paired-end mapping | 12,291 |
| essv7734363 | tandem duplication | SAMN00801317 | Sequencing | Paired-end mapping | 13,343 |
| essv7736301 | tandem duplication | SAMN00001530 | Sequencing | Paired-end mapping | 9,564 |
| essv7736714 | tandem duplication | SAMN00001538 | Sequencing | Paired-end mapping | 26,254 |
| essv7738181 | tandem duplication | SAMN00797126 | Sequencing | Paired-end mapping | 11,843 |
| essv7738254 | tandem duplication | SAMN00800831 | Sequencing | Paired-end mapping | 5,820 |
| essv7738298 | tandem duplication | SAMN00801237 | Sequencing | Paired-end mapping | 9,493 |
| essv7738849 | tandem duplication | SAMN00001556 | Sequencing | Paired-end mapping | 17,127 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7732797 | Remapped | Perfect | NC_000002.12:g.(22 7376294_227376494) _(227393573_227393 773)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 227,376,294 | 227,376,494 | 227,393,573 | 227,393,773 |
| essv7733226 | Remapped | Perfect | NC_000002.12:g.(22 7376294_227376494) _(227393573_227393 773)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 227,376,294 | 227,376,494 | 227,393,573 | 227,393,773 |
| essv7733321 | Remapped | Perfect | NC_000002.12:g.(22 7376294_227376494) _(227393573_227393 773)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 227,376,294 | 227,376,494 | 227,393,573 | 227,393,773 |
| essv7734245 | Remapped | Perfect | NC_000002.12:g.(22 7376294_227376494) _(227393573_227393 773)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 227,376,294 | 227,376,494 | 227,393,573 | 227,393,773 |
| essv7734363 | Remapped | Perfect | NC_000002.12:g.(22 7376294_227376494) _(227393573_227393 773)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 227,376,294 | 227,376,494 | 227,393,573 | 227,393,773 |
| essv7736301 | Remapped | Perfect | NC_000002.12:g.(22 7376294_227376494) _(227393573_227393 773)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 227,376,294 | 227,376,494 | 227,393,573 | 227,393,773 |
| essv7736714 | Remapped | Perfect | NC_000002.12:g.(22 7376294_227376494) _(227393573_227393 773)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 227,376,294 | 227,376,494 | 227,393,573 | 227,393,773 |
| essv7738181 | Remapped | Perfect | NC_000002.12:g.(22 7376294_227376494) _(227393573_227393 773)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 227,376,294 | 227,376,494 | 227,393,573 | 227,393,773 |
| essv7738254 | Remapped | Perfect | NC_000002.12:g.(22 7376294_227376494) _(227393573_227393 773)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 227,376,294 | 227,376,494 | 227,393,573 | 227,393,773 |
| essv7738298 | Remapped | Perfect | NC_000002.12:g.(22 7376294_227376494) _(227393573_227393 773)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 227,376,294 | 227,376,494 | 227,393,573 | 227,393,773 |
| essv7738849 | Remapped | Perfect | NC_000002.12:g.(22 7376294_227376494) _(227393573_227393 773)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 227,376,294 | 227,376,494 | 227,393,573 | 227,393,773 |
| essv7732797 | Remapped | Perfect | NC_000002.11:g.(22 8241010_228241210) _(228258289_228258 489)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 228,241,010 | 228,241,210 | 228,258,289 | 228,258,489 |
| essv7733226 | Remapped | Perfect | NC_000002.11:g.(22 8241010_228241210) _(228258289_228258 489)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 228,241,010 | 228,241,210 | 228,258,289 | 228,258,489 |
| essv7733321 | Remapped | Perfect | NC_000002.11:g.(22 8241010_228241210) _(228258289_228258 489)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 228,241,010 | 228,241,210 | 228,258,289 | 228,258,489 |
| essv7734245 | Remapped | Perfect | NC_000002.11:g.(22 8241010_228241210) _(228258289_228258 489)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 228,241,010 | 228,241,210 | 228,258,289 | 228,258,489 |
| essv7734363 | Remapped | Perfect | NC_000002.11:g.(22 8241010_228241210) _(228258289_228258 489)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 228,241,010 | 228,241,210 | 228,258,289 | 228,258,489 |
| essv7736301 | Remapped | Perfect | NC_000002.11:g.(22 8241010_228241210) _(228258289_228258 489)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 228,241,010 | 228,241,210 | 228,258,289 | 228,258,489 |
| essv7736714 | Remapped | Perfect | NC_000002.11:g.(22 8241010_228241210) _(228258289_228258 489)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 228,241,010 | 228,241,210 | 228,258,289 | 228,258,489 |
| essv7738181 | Remapped | Perfect | NC_000002.11:g.(22 8241010_228241210) _(228258289_228258 489)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 228,241,010 | 228,241,210 | 228,258,289 | 228,258,489 |
| essv7738254 | Remapped | Perfect | NC_000002.11:g.(22 8241010_228241210) _(228258289_228258 489)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 228,241,010 | 228,241,210 | 228,258,289 | 228,258,489 |
| essv7738298 | Remapped | Perfect | NC_000002.11:g.(22 8241010_228241210) _(228258289_228258 489)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 228,241,010 | 228,241,210 | 228,258,289 | 228,258,489 |
| essv7738849 | Remapped | Perfect | NC_000002.11:g.(22 8241010_228241210) _(228258289_228258 489)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 228,241,010 | 228,241,210 | 228,258,289 | 228,258,489 |
| essv7732797 | Submitted genomic | NC_000002.10:g.(22 7949254_227949454) _(227966533_227966 733)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 227,949,254 | 227,949,454 | 227,966,533 | 227,966,733 | ||
| essv7733226 | Submitted genomic | NC_000002.10:g.(22 7949254_227949454) _(227966533_227966 733)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 227,949,254 | 227,949,454 | 227,966,533 | 227,966,733 | ||
| essv7733321 | Submitted genomic | NC_000002.10:g.(22 7949254_227949454) _(227966533_227966 733)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 227,949,254 | 227,949,454 | 227,966,533 | 227,966,733 | ||
| essv7734245 | Submitted genomic | NC_000002.10:g.(22 7949254_227949454) _(227966533_227966 733)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 227,949,254 | 227,949,454 | 227,966,533 | 227,966,733 | ||
| essv7734363 | Submitted genomic | NC_000002.10:g.(22 7949254_227949454) _(227966533_227966 733)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 227,949,254 | 227,949,454 | 227,966,533 | 227,966,733 | ||
| essv7736301 | Submitted genomic | NC_000002.10:g.(22 7949254_227949454) _(227966533_227966 733)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 227,949,254 | 227,949,454 | 227,966,533 | 227,966,733 | ||
| essv7736714 | Submitted genomic | NC_000002.10:g.(22 7949254_227949454) _(227966533_227966 733)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 227,949,254 | 227,949,454 | 227,966,533 | 227,966,733 | ||
| essv7738181 | Submitted genomic | NC_000002.10:g.(22 7949254_227949454) _(227966533_227966 733)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 227,949,254 | 227,949,454 | 227,966,533 | 227,966,733 | ||
| essv7738254 | Submitted genomic | NC_000002.10:g.(22 7949254_227949454) _(227966533_227966 733)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 227,949,254 | 227,949,454 | 227,966,533 | 227,966,733 | ||
| essv7738298 | Submitted genomic | NC_000002.10:g.(22 7949254_227949454) _(227966533_227966 733)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 227,949,254 | 227,949,454 | 227,966,533 | 227,966,733 | ||
| essv7738849 | Submitted genomic | NC_000002.10:g.(22 7949254_227949454) _(227966533_227966 733)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 227,949,254 | 227,949,454 | 227,966,533 | 227,966,733 |