esv3647891
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:14
- 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: 178 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 178 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3647891 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 44,242,600 | 44,242,600 |
| esv3647891 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 44,638,480 | 44,638,480 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv16437005 | alu insertion | SAMN00630194 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,187 |
| essv16437006 | alu insertion | SAMN00630235 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,253 |
| essv16437007 | alu insertion | SAMN01036704 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,279 |
| essv16437008 | alu insertion | SAMN00779960 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,258 |
| essv16437009 | alu insertion | SAMN01036715 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,214 |
| essv16437010 | alu insertion | SAMN01036746 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,278 |
| essv16437011 | alu insertion | SAMN01761295 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,217 |
| essv16437012 | alu insertion | SAMN01761304 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,309 |
| essv16437013 | alu insertion | SAMN01761307 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,217 |
| essv16437014 | alu insertion | SAMN01761320 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,295 |
| essv16437015 | alu insertion | SAMN01761345 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,565 |
| essv16437016 | alu insertion | SAMN00001667 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,266 |
| essv16437017 | alu insertion | SAMN00000550 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,070 |
| essv16437018 | alu insertion | SAMN00001688 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,391 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16437005 | Remapped | Perfect | NC_000022.11:g.442 42600_44242601ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,242,600 | 44,242,600 |
| essv16437006 | Remapped | Perfect | NC_000022.11:g.442 42600_44242601ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,242,600 | 44,242,600 |
| essv16437007 | Remapped | Perfect | NC_000022.11:g.442 42600_44242601ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,242,600 | 44,242,600 |
| essv16437008 | Remapped | Perfect | NC_000022.11:g.442 42600_44242601ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,242,600 | 44,242,600 |
| essv16437009 | Remapped | Perfect | NC_000022.11:g.442 42600_44242601ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,242,600 | 44,242,600 |
| essv16437010 | Remapped | Perfect | NC_000022.11:g.442 42600_44242601ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,242,600 | 44,242,600 |
| essv16437011 | Remapped | Perfect | NC_000022.11:g.442 42600_44242601ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,242,600 | 44,242,600 |
| essv16437012 | Remapped | Perfect | NC_000022.11:g.442 42600_44242601ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,242,600 | 44,242,600 |
| essv16437013 | Remapped | Perfect | NC_000022.11:g.442 42600_44242601ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,242,600 | 44,242,600 |
| essv16437014 | Remapped | Perfect | NC_000022.11:g.442 42600_44242601ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,242,600 | 44,242,600 |
| essv16437015 | Remapped | Perfect | NC_000022.11:g.442 42600_44242601ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,242,600 | 44,242,600 |
| essv16437016 | Remapped | Perfect | NC_000022.11:g.442 42600_44242601ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,242,600 | 44,242,600 |
| essv16437017 | Remapped | Perfect | NC_000022.11:g.442 42600_44242601ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,242,600 | 44,242,600 |
| essv16437018 | Remapped | Perfect | NC_000022.11:g.442 42600_44242601ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 44,242,600 | 44,242,600 |
| essv16437005 | Submitted genomic | NC_000022.10:g.446 38480_44638481ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 44,638,480 | 44,638,480 | ||
| essv16437006 | Submitted genomic | NC_000022.10:g.446 38480_44638481ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 44,638,480 | 44,638,480 | ||
| essv16437007 | Submitted genomic | NC_000022.10:g.446 38480_44638481ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 44,638,480 | 44,638,480 | ||
| essv16437008 | Submitted genomic | NC_000022.10:g.446 38480_44638481ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 44,638,480 | 44,638,480 | ||
| essv16437009 | Submitted genomic | NC_000022.10:g.446 38480_44638481ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 44,638,480 | 44,638,480 | ||
| essv16437010 | Submitted genomic | NC_000022.10:g.446 38480_44638481ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 44,638,480 | 44,638,480 | ||
| essv16437011 | Submitted genomic | NC_000022.10:g.446 38480_44638481ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 44,638,480 | 44,638,480 | ||
| essv16437012 | Submitted genomic | NC_000022.10:g.446 38480_44638481ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 44,638,480 | 44,638,480 | ||
| essv16437013 | Submitted genomic | NC_000022.10:g.446 38480_44638481ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 44,638,480 | 44,638,480 | ||
| essv16437014 | Submitted genomic | NC_000022.10:g.446 38480_44638481ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 44,638,480 | 44,638,480 | ||
| essv16437015 | Submitted genomic | NC_000022.10:g.446 38480_44638481ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 44,638,480 | 44,638,480 | ||
| essv16437016 | Submitted genomic | NC_000022.10:g.446 38480_44638481ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 44,638,480 | 44,638,480 | ||
| essv16437017 | Submitted genomic | NC_000022.10:g.446 38480_44638481ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 44,638,480 | 44,638,480 | ||
| essv16437018 | Submitted genomic | NC_000022.10:g.446 38480_44638481ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 44,638,480 | 44,638,480 |