esv3380819
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:111
- Publication(s):1000 Genomes Project Consortium et al. 2010
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: 95 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 95 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 35 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3380819 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 201,385,365 (-101, +99) | 201,385,475 (-101, +101) |
| esv3380819 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 202,250,088 (-101, +99) | 202,250,198 (-101, +101) |
| esv3380819 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 201,958,333 (-101, +99) | 201,958,443 (-101, +101) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8674627 | insertion | SAMN00001695 | Sequencing | Paired-end mapping | 37,049 |
| essv8674628 | insertion | SAMN00801912 | Sequencing | Paired-end mapping | 25,841 |
| essv8674629 | insertion | SAMN00801914 | Sequencing | Paired-end mapping | 26,039 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8674627 | Remapped | Perfect | NC_000002.12:g.(20 1385264_201385464) _(201385374_201385 576)ins118 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 201,385,365 (-101, +99) | 201,385,475 (-101, +101) |
| essv8674628 | Remapped | Perfect | NC_000002.12:g.(20 1385264_201385464) _(201385374_201385 576)ins118 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 201,385,365 (-101, +99) | 201,385,475 (-101, +101) |
| essv8674629 | Remapped | Perfect | NC_000002.12:g.(20 1385264_201385464) _(201385374_201385 576)ins118 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 201,385,365 (-101, +99) | 201,385,475 (-101, +101) |
| essv8674627 | Remapped | Perfect | NC_000002.11:g.(20 2249987_202250187) _(202250097_202250 299)ins118 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 202,250,088 (-101, +99) | 202,250,198 (-101, +101) |
| essv8674628 | Remapped | Perfect | NC_000002.11:g.(20 2249987_202250187) _(202250097_202250 299)ins118 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 202,250,088 (-101, +99) | 202,250,198 (-101, +101) |
| essv8674629 | Remapped | Perfect | NC_000002.11:g.(20 2249987_202250187) _(202250097_202250 299)ins118 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 202,250,088 (-101, +99) | 202,250,198 (-101, +101) |
| essv8674627 | Submitted genomic | NC_000002.10:g.(20 1958232_201958432) _(201958342_201958 544)ins118 | NCBI36 (hg18) | NC_000002.10 | Chr2 | 201,958,333 (-101, +99) | 201,958,443 (-101, +101) | ||
| essv8674628 | Submitted genomic | NC_000002.10:g.(20 1958232_201958432) _(201958342_201958 544)ins118 | NCBI36 (hg18) | NC_000002.10 | Chr2 | 201,958,333 (-101, +99) | 201,958,443 (-101, +101) | ||
| essv8674629 | Submitted genomic | NC_000002.10:g.(20 1958232_201958432) _(201958342_201958 544)ins118 | NCBI36 (hg18) | NC_000002.10 | Chr2 | 201,958,333 (-101, +99) | 201,958,443 (-101, +101) |