esv3648018
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 351 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 351 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3648018 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 48,657,900 | 48,657,900 |
| esv3648018 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 49,053,712 | 49,053,712 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv16449719 | alu insertion | SAMN00009116 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,761 |
| essv16449720 | alu insertion | SAMN00009177 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,763 |
| essv16449721 | alu insertion | SAMN00630208 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,455 |
| essv16449722 | alu insertion | SAMN01091052 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,080 |
| essv16449723 | alu insertion | SAMN01036703 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,162 |
| essv16449724 | alu insertion | SAMN00779985 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,290 |
| essv16449725 | alu insertion | SAMN01761220 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,325 |
| essv16449726 | alu insertion | SAMN00001683 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,908 |
| essv16449727 | alu insertion | SAMN00007870 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,441 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16449719 | Remapped | Perfect | NC_000022.11:g.486 57900_48657901ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 48,657,900 | 48,657,900 |
| essv16449720 | Remapped | Perfect | NC_000022.11:g.486 57900_48657901ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 48,657,900 | 48,657,900 |
| essv16449721 | Remapped | Perfect | NC_000022.11:g.486 57900_48657901ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 48,657,900 | 48,657,900 |
| essv16449722 | Remapped | Perfect | NC_000022.11:g.486 57900_48657901ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 48,657,900 | 48,657,900 |
| essv16449723 | Remapped | Perfect | NC_000022.11:g.486 57900_48657901ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 48,657,900 | 48,657,900 |
| essv16449724 | Remapped | Perfect | NC_000022.11:g.486 57900_48657901ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 48,657,900 | 48,657,900 |
| essv16449725 | Remapped | Perfect | NC_000022.11:g.486 57900_48657901ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 48,657,900 | 48,657,900 |
| essv16449726 | Remapped | Perfect | NC_000022.11:g.486 57900_48657901ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 48,657,900 | 48,657,900 |
| essv16449727 | Remapped | Perfect | NC_000022.11:g.486 57900_48657901ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 48,657,900 | 48,657,900 |
| essv16449719 | Submitted genomic | NC_000022.10:g.490 53712_49053713ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 49,053,712 | 49,053,712 | ||
| essv16449720 | Submitted genomic | NC_000022.10:g.490 53712_49053713ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 49,053,712 | 49,053,712 | ||
| essv16449721 | Submitted genomic | NC_000022.10:g.490 53712_49053713ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 49,053,712 | 49,053,712 | ||
| essv16449722 | Submitted genomic | NC_000022.10:g.490 53712_49053713ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 49,053,712 | 49,053,712 | ||
| essv16449723 | Submitted genomic | NC_000022.10:g.490 53712_49053713ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 49,053,712 | 49,053,712 | ||
| essv16449724 | Submitted genomic | NC_000022.10:g.490 53712_49053713ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 49,053,712 | 49,053,712 | ||
| essv16449725 | Submitted genomic | NC_000022.10:g.490 53712_49053713ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 49,053,712 | 49,053,712 | ||
| essv16449726 | Submitted genomic | NC_000022.10:g.490 53712_49053713ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 49,053,712 | 49,053,712 | ||
| essv16449727 | Submitted genomic | NC_000022.10:g.490 53712_49053713ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 49,053,712 | 49,053,712 |