esv3620186
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:16,172
- Publication(s):1000 Genomes Project Consortium et al. 2015
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: 578 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 584 SVs from 57 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3620186 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 28,715,010 (-500, +0) | 28,731,181 (-0, +500) |
| esv3620186 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 28,715,008 (-500, +0) | 28,731,179 (-0, +500) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv13439303 | deletion | SAMN00004632 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,666 |
| essv13439304 | deletion | SAMN00016969 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,443 |
| essv13439305 | deletion | SAMN00006352 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,799 |
| essv13439306 | deletion | SAMN00009106 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,582 |
| essv13439307 | deletion | SAMN01761385 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,853 |
| essv13439308 | deletion | SAMN01090818 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,288 |
| essv13439309 | deletion | SAMN01091040 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,633 |
| essv13439310 | deletion | SAMN00797419 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,948 |
| essv13439311 | deletion | SAMN00801708 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,907 |
| essv13439312 | deletion | SAMN00007822 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,993 |
| essv13439313 | deletion | SAMN00001278 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,899 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv13439303 | Remapped | Perfect | NC_000009.12:g.(28 714510_28715010)_( 28731181_28731681) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,715,010 (-500, +0) | 28,731,181 (-0, +500) |
| essv13439304 | Remapped | Perfect | NC_000009.12:g.(28 714510_28715010)_( 28731181_28731681) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,715,010 (-500, +0) | 28,731,181 (-0, +500) |
| essv13439305 | Remapped | Perfect | NC_000009.12:g.(28 714510_28715010)_( 28731181_28731681) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,715,010 (-500, +0) | 28,731,181 (-0, +500) |
| essv13439306 | Remapped | Perfect | NC_000009.12:g.(28 714510_28715010)_( 28731181_28731681) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,715,010 (-500, +0) | 28,731,181 (-0, +500) |
| essv13439307 | Remapped | Perfect | NC_000009.12:g.(28 714510_28715010)_( 28731181_28731681) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,715,010 (-500, +0) | 28,731,181 (-0, +500) |
| essv13439308 | Remapped | Perfect | NC_000009.12:g.(28 714510_28715010)_( 28731181_28731681) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,715,010 (-500, +0) | 28,731,181 (-0, +500) |
| essv13439309 | Remapped | Perfect | NC_000009.12:g.(28 714510_28715010)_( 28731181_28731681) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,715,010 (-500, +0) | 28,731,181 (-0, +500) |
| essv13439310 | Remapped | Perfect | NC_000009.12:g.(28 714510_28715010)_( 28731181_28731681) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,715,010 (-500, +0) | 28,731,181 (-0, +500) |
| essv13439311 | Remapped | Perfect | NC_000009.12:g.(28 714510_28715010)_( 28731181_28731681) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,715,010 (-500, +0) | 28,731,181 (-0, +500) |
| essv13439312 | Remapped | Perfect | NC_000009.12:g.(28 714510_28715010)_( 28731181_28731681) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,715,010 (-500, +0) | 28,731,181 (-0, +500) |
| essv13439313 | Remapped | Perfect | NC_000009.12:g.(28 714510_28715010)_( 28731181_28731681) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,715,010 (-500, +0) | 28,731,181 (-0, +500) |
| essv13439303 | Submitted genomic | NC_000009.11:g.(28 714508_28715008)_( 28731179_28731679) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,715,008 (-500, +0) | 28,731,179 (-0, +500) | ||
| essv13439304 | Submitted genomic | NC_000009.11:g.(28 714508_28715008)_( 28731179_28731679) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,715,008 (-500, +0) | 28,731,179 (-0, +500) | ||
| essv13439305 | Submitted genomic | NC_000009.11:g.(28 714508_28715008)_( 28731179_28731679) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,715,008 (-500, +0) | 28,731,179 (-0, +500) | ||
| essv13439306 | Submitted genomic | NC_000009.11:g.(28 714508_28715008)_( 28731179_28731679) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,715,008 (-500, +0) | 28,731,179 (-0, +500) | ||
| essv13439307 | Submitted genomic | NC_000009.11:g.(28 714508_28715008)_( 28731179_28731679) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,715,008 (-500, +0) | 28,731,179 (-0, +500) | ||
| essv13439308 | Submitted genomic | NC_000009.11:g.(28 714508_28715008)_( 28731179_28731679) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,715,008 (-500, +0) | 28,731,179 (-0, +500) | ||
| essv13439309 | Submitted genomic | NC_000009.11:g.(28 714508_28715008)_( 28731179_28731679) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,715,008 (-500, +0) | 28,731,179 (-0, +500) | ||
| essv13439310 | Submitted genomic | NC_000009.11:g.(28 714508_28715008)_( 28731179_28731679) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,715,008 (-500, +0) | 28,731,179 (-0, +500) | ||
| essv13439311 | Submitted genomic | NC_000009.11:g.(28 714508_28715008)_( 28731179_28731679) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,715,008 (-500, +0) | 28,731,179 (-0, +500) | ||
| essv13439312 | Submitted genomic | NC_000009.11:g.(28 714508_28715008)_( 28731179_28731679) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,715,008 (-500, +0) | 28,731,179 (-0, +500) | ||
| essv13439313 | Submitted genomic | NC_000009.11:g.(28 714508_28715008)_( 28731179_28731679) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,715,008 (-500, +0) | 28,731,179 (-0, +500) |