esv3468858
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:16
- Validation:Yes
- Clinical Assertions: No
- Region Size:15,563
- 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: 166 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 101 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3468858 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 15,187,284 (-136, +74) | 15,202,846 (-113, +107) |
| esv3468858 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 15,187,393 (-136, +74) | 15,202,955 (-113, +107) |
| esv3468858 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 15,240,393 (-136, +74) | 15,255,955 (-113, +107) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8094488 | deletion | SAMN00801031 | Sequencing | Paired-end mapping | 9,208 |
| essv8094489 | deletion | SAMN00001645 | Sequencing | Paired-end mapping | 13,185 |
| essv8094490 | deletion | SAMN00800835 | Sequencing | Paired-end mapping | 10,547 |
| essv8094491 | deletion | SAMN00801912 | Sequencing | Paired-end mapping | 25,841 |
| essv8094492 | deletion | SAMN00001569 | Sequencing | Paired-end mapping | 9,598 |
| essv8094493 | deletion | SAMN00001544 | Sequencing | Paired-end mapping | 15,303 |
| essv8094494 | deletion | SAMN00801708 | Sequencing | Paired-end mapping | 16,085 |
| essv8094495 | deletion | SAMN00001577 | Sequencing | Paired-end mapping | 9,631 |
| essv8094496 | deletion | SAMN00001589 | Sequencing | Paired-end mapping | 10,468 |
| essv8094497 | deletion | SAMN00001665 | Sequencing | Paired-end mapping | 11,494 |
| essv8094499 | deletion | SAMN00001622 | Sequencing | Paired-end mapping | 10,424 |
| essv8094500 | deletion | SAMN00001619 | Sequencing | Paired-end mapping | 14,368 |
| essv8094501 | deletion | SAMN00001596 | Sequencing | Paired-end mapping | 14,505 |
| essv8094502 | deletion | SAMN00001613 | Sequencing | Paired-end mapping | 15,037 |
| essv8094503 | deletion | SAMN00001612 | Sequencing | Paired-end mapping | 15,685 |
| essv8094504 | deletion | SAMN00001630 | Sequencing | Paired-end mapping | 10,735 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8094488 | Remapped | Perfect | NC_000005.10:g.(15 187148_15187358)_( 15202733_15202953) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 15,187,284 (-136, +74) | 15,202,846 (-113, +107) |
| essv8094489 | Remapped | Perfect | NC_000005.10:g.(15 187148_15187358)_( 15202733_15202953) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 15,187,284 (-136, +74) | 15,202,846 (-113, +107) |
| essv8094490 | Remapped | Perfect | NC_000005.10:g.(15 187148_15187358)_( 15202733_15202953) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 15,187,284 (-136, +74) | 15,202,846 (-113, +107) |
| essv8094491 | Remapped | Perfect | NC_000005.10:g.(15 187148_15187358)_( 15202733_15202953) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 15,187,284 (-136, +74) | 15,202,846 (-113, +107) |
| essv8094492 | Remapped | Perfect | NC_000005.10:g.(15 187148_15187358)_( 15202733_15202953) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 15,187,284 (-136, +74) | 15,202,846 (-113, +107) |
| essv8094493 | Remapped | Perfect | NC_000005.10:g.(15 187148_15187358)_( 15202733_15202953) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 15,187,284 (-136, +74) | 15,202,846 (-113, +107) |
| essv8094494 | Remapped | Perfect | NC_000005.10:g.(15 187148_15187358)_( 15202733_15202953) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 15,187,284 (-136, +74) | 15,202,846 (-113, +107) |
| essv8094495 | Remapped | Perfect | NC_000005.10:g.(15 187148_15187358)_( 15202733_15202953) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 15,187,284 (-136, +74) | 15,202,846 (-113, +107) |
| essv8094496 | Remapped | Perfect | NC_000005.10:g.(15 187148_15187358)_( 15202733_15202953) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 15,187,284 (-136, +74) | 15,202,846 (-113, +107) |
| essv8094497 | Remapped | Perfect | NC_000005.10:g.(15 187148_15187358)_( 15202733_15202953) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 15,187,284 (-136, +74) | 15,202,846 (-113, +107) |
| essv8094499 | Remapped | Perfect | NC_000005.10:g.(15 187148_15187358)_( 15202733_15202953) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 15,187,284 (-136, +74) | 15,202,846 (-113, +107) |
| essv8094500 | Remapped | Perfect | NC_000005.10:g.(15 187148_15187358)_( 15202733_15202953) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 15,187,284 (-136, +74) | 15,202,846 (-113, +107) |
| essv8094501 | Remapped | Perfect | NC_000005.10:g.(15 187148_15187358)_( 15202733_15202953) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 15,187,284 (-136, +74) | 15,202,846 (-113, +107) |
| essv8094502 | Remapped | Perfect | NC_000005.10:g.(15 187148_15187358)_( 15202733_15202953) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 15,187,284 (-136, +74) | 15,202,846 (-113, +107) |
| essv8094503 | Remapped | Perfect | NC_000005.10:g.(15 187148_15187358)_( 15202733_15202953) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 15,187,284 (-136, +74) | 15,202,846 (-113, +107) |
| essv8094504 | Remapped | Perfect | NC_000005.10:g.(15 187148_15187358)_( 15202733_15202953) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 15,187,284 (-136, +74) | 15,202,846 (-113, +107) |
| essv8094488 | Remapped | Perfect | NC_000005.9:g.(151 87257_15187467)_(1 5202842_15203062)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 15,187,393 (-136, +74) | 15,202,955 (-113, +107) |
| essv8094489 | Remapped | Perfect | NC_000005.9:g.(151 87257_15187467)_(1 5202842_15203062)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 15,187,393 (-136, +74) | 15,202,955 (-113, +107) |
| essv8094490 | Remapped | Perfect | NC_000005.9:g.(151 87257_15187467)_(1 5202842_15203062)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 15,187,393 (-136, +74) | 15,202,955 (-113, +107) |
| essv8094491 | Remapped | Perfect | NC_000005.9:g.(151 87257_15187467)_(1 5202842_15203062)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 15,187,393 (-136, +74) | 15,202,955 (-113, +107) |
| essv8094492 | Remapped | Perfect | NC_000005.9:g.(151 87257_15187467)_(1 5202842_15203062)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 15,187,393 (-136, +74) | 15,202,955 (-113, +107) |
| essv8094493 | Remapped | Perfect | NC_000005.9:g.(151 87257_15187467)_(1 5202842_15203062)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 15,187,393 (-136, +74) | 15,202,955 (-113, +107) |
| essv8094494 | Remapped | Perfect | NC_000005.9:g.(151 87257_15187467)_(1 5202842_15203062)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 15,187,393 (-136, +74) | 15,202,955 (-113, +107) |
| essv8094495 | Remapped | Perfect | NC_000005.9:g.(151 87257_15187467)_(1 5202842_15203062)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 15,187,393 (-136, +74) | 15,202,955 (-113, +107) |
| essv8094496 | Remapped | Perfect | NC_000005.9:g.(151 87257_15187467)_(1 5202842_15203062)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 15,187,393 (-136, +74) | 15,202,955 (-113, +107) |
| essv8094497 | Remapped | Perfect | NC_000005.9:g.(151 87257_15187467)_(1 5202842_15203062)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 15,187,393 (-136, +74) | 15,202,955 (-113, +107) |
| essv8094499 | Remapped | Perfect | NC_000005.9:g.(151 87257_15187467)_(1 5202842_15203062)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 15,187,393 (-136, +74) | 15,202,955 (-113, +107) |
| essv8094500 | Remapped | Perfect | NC_000005.9:g.(151 87257_15187467)_(1 5202842_15203062)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 15,187,393 (-136, +74) | 15,202,955 (-113, +107) |
| essv8094501 | Remapped | Perfect | NC_000005.9:g.(151 87257_15187467)_(1 5202842_15203062)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 15,187,393 (-136, +74) | 15,202,955 (-113, +107) |
| essv8094502 | Remapped | Perfect | NC_000005.9:g.(151 87257_15187467)_(1 5202842_15203062)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 15,187,393 (-136, +74) | 15,202,955 (-113, +107) |
| essv8094503 | Remapped | Perfect | NC_000005.9:g.(151 87257_15187467)_(1 5202842_15203062)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 15,187,393 (-136, +74) | 15,202,955 (-113, +107) |
| essv8094504 | Remapped | Perfect | NC_000005.9:g.(151 87257_15187467)_(1 5202842_15203062)d el | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 15,187,393 (-136, +74) | 15,202,955 (-113, +107) |
| essv8094488 | Submitted genomic | NC_000005.8:g.(152 40257_15240467)_(1 5255842_15256062)d el | NCBI36 (hg18) | NC_000005.8 | Chr5 | 15,240,393 (-136, +74) | 15,255,955 (-113, +107) | ||
| essv8094489 | Submitted genomic | NC_000005.8:g.(152 40257_15240467)_(1 5255842_15256062)d el | NCBI36 (hg18) | NC_000005.8 | Chr5 | 15,240,393 (-136, +74) | 15,255,955 (-113, +107) | ||
| essv8094490 | Submitted genomic | NC_000005.8:g.(152 40257_15240467)_(1 5255842_15256062)d el | NCBI36 (hg18) | NC_000005.8 | Chr5 | 15,240,393 (-136, +74) | 15,255,955 (-113, +107) | ||
| essv8094491 | Submitted genomic | NC_000005.8:g.(152 40257_15240467)_(1 5255842_15256062)d el | NCBI36 (hg18) | NC_000005.8 | Chr5 | 15,240,393 (-136, +74) | 15,255,955 (-113, +107) | ||
| essv8094492 | Submitted genomic | NC_000005.8:g.(152 40257_15240467)_(1 5255842_15256062)d el | NCBI36 (hg18) | NC_000005.8 | Chr5 | 15,240,393 (-136, +74) | 15,255,955 (-113, +107) | ||
| essv8094493 | Submitted genomic | NC_000005.8:g.(152 40257_15240467)_(1 5255842_15256062)d el | NCBI36 (hg18) | NC_000005.8 | Chr5 | 15,240,393 (-136, +74) | 15,255,955 (-113, +107) | ||
| essv8094494 | Submitted genomic | NC_000005.8:g.(152 40257_15240467)_(1 5255842_15256062)d el | NCBI36 (hg18) | NC_000005.8 | Chr5 | 15,240,393 (-136, +74) | 15,255,955 (-113, +107) | ||
| essv8094495 | Submitted genomic | NC_000005.8:g.(152 40257_15240467)_(1 5255842_15256062)d el | NCBI36 (hg18) | NC_000005.8 | Chr5 | 15,240,393 (-136, +74) | 15,255,955 (-113, +107) | ||
| essv8094496 | Submitted genomic | NC_000005.8:g.(152 40257_15240467)_(1 5255842_15256062)d el | NCBI36 (hg18) | NC_000005.8 | Chr5 | 15,240,393 (-136, +74) | 15,255,955 (-113, +107) | ||
| essv8094497 | Submitted genomic | NC_000005.8:g.(152 40257_15240467)_(1 5255842_15256062)d el | NCBI36 (hg18) | NC_000005.8 | Chr5 | 15,240,393 (-136, +74) | 15,255,955 (-113, +107) | ||
| essv8094499 | Submitted genomic | NC_000005.8:g.(152 40257_15240467)_(1 5255842_15256062)d el | NCBI36 (hg18) | NC_000005.8 | Chr5 | 15,240,393 (-136, +74) | 15,255,955 (-113, +107) | ||
| essv8094500 | Submitted genomic | NC_000005.8:g.(152 40257_15240467)_(1 5255842_15256062)d el | NCBI36 (hg18) | NC_000005.8 | Chr5 | 15,240,393 (-136, +74) | 15,255,955 (-113, +107) | ||
| essv8094501 | Submitted genomic | NC_000005.8:g.(152 40257_15240467)_(1 5255842_15256062)d el | NCBI36 (hg18) | NC_000005.8 | Chr5 | 15,240,393 (-136, +74) | 15,255,955 (-113, +107) | ||
| essv8094502 | Submitted genomic | NC_000005.8:g.(152 40257_15240467)_(1 5255842_15256062)d el | NCBI36 (hg18) | NC_000005.8 | Chr5 | 15,240,393 (-136, +74) | 15,255,955 (-113, +107) | ||
| essv8094503 | Submitted genomic | NC_000005.8:g.(152 40257_15240467)_(1 5255842_15256062)d el | NCBI36 (hg18) | NC_000005.8 | Chr5 | 15,240,393 (-136, +74) | 15,255,955 (-113, +107) | ||
| essv8094504 | Submitted genomic | NC_000005.8:g.(152 40257_15240467)_(1 5255842_15256062)d el | NCBI36 (hg18) | NC_000005.8 | Chr5 | 15,240,393 (-136, +74) | 15,255,955 (-113, +107) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8094493 | 36 | SAMN00001544 | Digital array | Other | Fail |
| essv8094492 | 36 | SAMN00001569 | Digital array | Other | Fail |
| essv8094495 | 36 | SAMN00001577 | Digital array | Other | Fail |
| essv8094496 | 36 | SAMN00001589 | Digital array | Other | Fail |
| essv8094501 | 36 | SAMN00001596 | Digital array | Other | Fail |
| essv8094503 | 36 | SAMN00001612 | Digital array | Other | Fail |
| essv8094502 | 36 | SAMN00001613 | Digital array | Other | Fail |
| essv8094500 | 36 | SAMN00001619 | Digital array | Other | Fail |
| essv8094499 | 36 | SAMN00001622 | Digital array | Other | Fail |
| essv8094504 | 36 | SAMN00001630 | Digital array | Other | Fail |
| essv8094489 | 36 | SAMN00001645 | Digital array | Other | Fail |
| essv8094497 | 36 | SAMN00001665 | Digital array | Other | Fail |
| essv8094490 | 36 | SAMN00800835 | Digital array | Other | Fail |
| essv8094488 | 36 | SAMN00801031 | Digital array | Other | Fail |
| essv8094494 | 36 | SAMN00801708 | Digital array | Other | Fail |
| essv8094491 | 36 | SAMN00801912 | Digital array | Other | Fail |
| essv8094493 | 38 | SAMN00001544 | Digital array | Other | Pass |
| essv8094492 | 38 | SAMN00001569 | Digital array | Other | Pass |
| essv8094495 | 38 | SAMN00001577 | Digital array | Other | Pass |
| essv8094496 | 38 | SAMN00001589 | Digital array | Other | Pass |
| essv8094501 | 38 | SAMN00001596 | Digital array | Other | Pass |
| essv8094503 | 38 | SAMN00001612 | Digital array | Other | Pass |
| essv8094502 | 38 | SAMN00001613 | Digital array | Other | Pass |
| essv8094500 | 38 | SAMN00001619 | Digital array | Other | Pass |
| essv8094499 | 38 | SAMN00001622 | Digital array | Other | Pass |
| essv8094504 | 38 | SAMN00001630 | Digital array | Other | Pass |
| essv8094489 | 38 | SAMN00001645 | Digital array | Other | Pass |
| essv8094497 | 38 | SAMN00001665 | Digital array | Other | Pass |
| essv8094490 | 38 | SAMN00800835 | Digital array | Other | Pass |
| essv8094488 | 38 | SAMN00801031 | Digital array | Other | Pass |
| essv8094494 | 38 | SAMN00801708 | Digital array | Other | Pass |
| essv8094491 | 38 | SAMN00801912 | Digital array | Other | Pass |