esv3619408
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10
- 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: 500 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 503 SVs from 40 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3619408 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 6,571,573 (-0, +10) | 6,571,582 (-10, +0) |
esv3619408 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 6,571,573 (-0, +10) | 6,571,582 (-10, +0) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv13387978 | insertion | SAMN01036830 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,762 |
essv13387979 | insertion | SAMN00001623 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,153 |
essv13387980 | insertion | SAMN00001662 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,113 |
essv13387981 | insertion | SAMN00001116 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,503 |
essv13387982 | insertion | SAMN00001164 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,395 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv13387978 | Remapped | Perfect | NC_000009.12:g.(65 71573_6571583)_(65 71572_6571582)ins? | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,571,573 (-0, +10) | 6,571,582 (-10, +0) |
essv13387979 | Remapped | Perfect | NC_000009.12:g.(65 71573_6571583)_(65 71572_6571582)ins? | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,571,573 (-0, +10) | 6,571,582 (-10, +0) |
essv13387980 | Remapped | Perfect | NC_000009.12:g.(65 71573_6571583)_(65 71572_6571582)ins? | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,571,573 (-0, +10) | 6,571,582 (-10, +0) |
essv13387981 | Remapped | Perfect | NC_000009.12:g.(65 71573_6571583)_(65 71572_6571582)ins? | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,571,573 (-0, +10) | 6,571,582 (-10, +0) |
essv13387982 | Remapped | Perfect | NC_000009.12:g.(65 71573_6571583)_(65 71572_6571582)ins? | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 6,571,573 (-0, +10) | 6,571,582 (-10, +0) |
essv13387978 | Submitted genomic | NC_000009.11:g.(65 71573_6571583)_(65 71572_6571582)ins? | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,571,573 (-0, +10) | 6,571,582 (-10, +0) | ||
essv13387979 | Submitted genomic | NC_000009.11:g.(65 71573_6571583)_(65 71572_6571582)ins? | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,571,573 (-0, +10) | 6,571,582 (-10, +0) | ||
essv13387980 | Submitted genomic | NC_000009.11:g.(65 71573_6571583)_(65 71572_6571582)ins? | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,571,573 (-0, +10) | 6,571,582 (-10, +0) | ||
essv13387981 | Submitted genomic | NC_000009.11:g.(65 71573_6571583)_(65 71572_6571582)ins? | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,571,573 (-0, +10) | 6,571,582 (-10, +0) | ||
essv13387982 | Submitted genomic | NC_000009.11:g.(65 71573_6571583)_(65 71572_6571582)ins? | GRCh37 (hg19) | NC_000009.11 | Chr9 | 6,571,573 (-0, +10) | 6,571,582 (-10, +0) |