esv2674528
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:18
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,536
- Description:High quality site
- Publication(s):1000 Genomes Project Consortium et al. 2012
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: 245 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 245 SVs from 48 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2674528 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 3,354,159 | 3,363,694 |
| esv2674528 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 3,257,453 | 3,266,988 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5477179 | deletion | SAMN00014395 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 812 |
| essv5488059 | deletion | SAMN00007807 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,402 |
| essv5497033 | deletion | SAMN00000475 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,658 |
| essv5517869 | deletion | SAMN00001184 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,618 |
| essv5673323 | deletion | SAMN00009139 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,778 |
| essv5715834 | deletion | SAMN00000575 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 989 |
| essv5987838 | deletion | SAMN00001693 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,362 |
| essv5992421 | deletion | SAMN00001172 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,516 |
| essv6000711 | deletion | SAMN00001583 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,451 |
| essv6008743 | deletion | SAMN00001626 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,427 |
| essv6126149 | deletion | SAMN00014341 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,190 |
| essv6184669 | deletion | SAMN00007809 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,340 |
| essv6285604 | deletion | SAMN00007753 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,117 |
| essv6404839 | deletion | SAMN00001178 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,252 |
| essv6506609 | deletion | SAMN00007855 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 891 |
| essv6512490 | deletion | SAMN00001587 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,494 |
| essv6528631 | deletion | SAMN00001136 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,695 |
| essv6584470 | deletion | SAMN00001155 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,570 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5477179 | Remapped | Perfect | NC_000017.11:g.335 4159_3363694delTAT AG | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,354,159 | 3,363,694 |
| essv5488059 | Remapped | Perfect | NC_000017.11:g.335 4159_3363694delTAT AG | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,354,159 | 3,363,694 |
| essv5497033 | Remapped | Perfect | NC_000017.11:g.335 4159_3363694delTAT AG | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,354,159 | 3,363,694 |
| essv5517869 | Remapped | Perfect | NC_000017.11:g.335 4159_3363694delTAT AG | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,354,159 | 3,363,694 |
| essv5673323 | Remapped | Perfect | NC_000017.11:g.335 4159_3363694delTAT AG | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,354,159 | 3,363,694 |
| essv5715834 | Remapped | Perfect | NC_000017.11:g.335 4159_3363694delTAT AG | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,354,159 | 3,363,694 |
| essv5987838 | Remapped | Perfect | NC_000017.11:g.335 4159_3363694delTAT AG | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,354,159 | 3,363,694 |
| essv5992421 | Remapped | Perfect | NC_000017.11:g.335 4159_3363694delTAT AG | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,354,159 | 3,363,694 |
| essv6000711 | Remapped | Perfect | NC_000017.11:g.335 4159_3363694delTAT AG | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,354,159 | 3,363,694 |
| essv6008743 | Remapped | Perfect | NC_000017.11:g.335 4159_3363694delTAT AG | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,354,159 | 3,363,694 |
| essv6126149 | Remapped | Perfect | NC_000017.11:g.335 4159_3363694delTAT AG | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,354,159 | 3,363,694 |
| essv6184669 | Remapped | Perfect | NC_000017.11:g.335 4159_3363694delTAT AG | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,354,159 | 3,363,694 |
| essv6285604 | Remapped | Perfect | NC_000017.11:g.335 4159_3363694delTAT AG | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,354,159 | 3,363,694 |
| essv6404839 | Remapped | Perfect | NC_000017.11:g.335 4159_3363694delTAT AG | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,354,159 | 3,363,694 |
| essv6506609 | Remapped | Perfect | NC_000017.11:g.335 4159_3363694delTAT AG | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,354,159 | 3,363,694 |
| essv6512490 | Remapped | Perfect | NC_000017.11:g.335 4159_3363694delTAT AG | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,354,159 | 3,363,694 |
| essv6528631 | Remapped | Perfect | NC_000017.11:g.335 4159_3363694delTAT AG | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,354,159 | 3,363,694 |
| essv6584470 | Remapped | Perfect | NC_000017.11:g.335 4159_3363694delTAT AG | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,354,159 | 3,363,694 |
| essv5477179 | Submitted genomic | NC_000017.10:g.325 7453_3266988delTAT AG | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,257,453 | 3,266,988 | ||
| essv5488059 | Submitted genomic | NC_000017.10:g.325 7453_3266988delTAT AG | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,257,453 | 3,266,988 | ||
| essv5497033 | Submitted genomic | NC_000017.10:g.325 7453_3266988delTAT AG | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,257,453 | 3,266,988 | ||
| essv5517869 | Submitted genomic | NC_000017.10:g.325 7453_3266988delTAT AG | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,257,453 | 3,266,988 | ||
| essv5673323 | Submitted genomic | NC_000017.10:g.325 7453_3266988delTAT AG | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,257,453 | 3,266,988 | ||
| essv5715834 | Submitted genomic | NC_000017.10:g.325 7453_3266988delTAT AG | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,257,453 | 3,266,988 | ||
| essv5987838 | Submitted genomic | NC_000017.10:g.325 7453_3266988delTAT AG | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,257,453 | 3,266,988 | ||
| essv5992421 | Submitted genomic | NC_000017.10:g.325 7453_3266988delTAT AG | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,257,453 | 3,266,988 | ||
| essv6000711 | Submitted genomic | NC_000017.10:g.325 7453_3266988delTAT AG | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,257,453 | 3,266,988 | ||
| essv6008743 | Submitted genomic | NC_000017.10:g.325 7453_3266988delTAT AG | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,257,453 | 3,266,988 | ||
| essv6126149 | Submitted genomic | NC_000017.10:g.325 7453_3266988delTAT AG | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,257,453 | 3,266,988 | ||
| essv6184669 | Submitted genomic | NC_000017.10:g.325 7453_3266988delTAT AG | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,257,453 | 3,266,988 | ||
| essv6285604 | Submitted genomic | NC_000017.10:g.325 7453_3266988delTAT AG | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,257,453 | 3,266,988 | ||
| essv6404839 | Submitted genomic | NC_000017.10:g.325 7453_3266988delTAT AG | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,257,453 | 3,266,988 | ||
| essv6506609 | Submitted genomic | NC_000017.10:g.325 7453_3266988delTAT AG | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,257,453 | 3,266,988 | ||
| essv6512490 | Submitted genomic | NC_000017.10:g.325 7453_3266988delTAT AG | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,257,453 | 3,266,988 | ||
| essv6528631 | Submitted genomic | NC_000017.10:g.325 7453_3266988delTAT AG | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,257,453 | 3,266,988 | ||
| essv6584470 | Submitted genomic | NC_000017.10:g.325 7453_3266988delTAT AG | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,257,453 | 3,266,988 |