esv3595429
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:120
- 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: 85 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3595429 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 17,999,521 (-0, +120) | 17,999,640 (-120, +0) |
| esv3595429 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 18,041,013 (-0, +120) | 18,041,132 (-120, +0) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv10939855 | insertion | SAMN00630258 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,663 |
| essv10939856 | insertion | SAMN00263050 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,870 |
| essv10939857 | insertion | SAMN00001055 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,911 |
| essv10939858 | insertion | SAMN00001166 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,448 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv10939855 | Remapped | Perfect | NC_000003.12:g.(17 999521_17999641)_( 17999520_17999640) ins? | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 17,999,521 (-0, +120) | 17,999,640 (-120, +0) |
| essv10939856 | Remapped | Perfect | NC_000003.12:g.(17 999521_17999641)_( 17999520_17999640) ins? | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 17,999,521 (-0, +120) | 17,999,640 (-120, +0) |
| essv10939857 | Remapped | Perfect | NC_000003.12:g.(17 999521_17999641)_( 17999520_17999640) ins? | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 17,999,521 (-0, +120) | 17,999,640 (-120, +0) |
| essv10939858 | Remapped | Perfect | NC_000003.12:g.(17 999521_17999641)_( 17999520_17999640) ins? | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 17,999,521 (-0, +120) | 17,999,640 (-120, +0) |
| essv10939855 | Submitted genomic | NC_000003.11:g.(18 041013_18041133)_( 18041012_18041132) ins? | GRCh37 (hg19) | NC_000003.11 | Chr3 | 18,041,013 (-0, +120) | 18,041,132 (-120, +0) | ||
| essv10939856 | Submitted genomic | NC_000003.11:g.(18 041013_18041133)_( 18041012_18041132) ins? | GRCh37 (hg19) | NC_000003.11 | Chr3 | 18,041,013 (-0, +120) | 18,041,132 (-120, +0) | ||
| essv10939857 | Submitted genomic | NC_000003.11:g.(18 041013_18041133)_( 18041012_18041132) ins? | GRCh37 (hg19) | NC_000003.11 | Chr3 | 18,041,013 (-0, +120) | 18,041,132 (-120, +0) | ||
| essv10939858 | Submitted genomic | NC_000003.11:g.(18 041013_18041133)_( 18041012_18041132) ins? | GRCh37 (hg19) | NC_000003.11 | Chr3 | 18,041,013 (-0, +120) | 18,041,132 (-120, +0) |