esv3398155
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:113
- 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: 66 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 66 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 13 SVs from 6 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3398155 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 74,317,995 (-106, +103) | 74,318,107 (-106, +106) |
| esv3398155 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 73,613,820 (-106, +103) | 73,613,932 (-106, +106) |
| esv3398155 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 73,649,576 (-106, +103) | 73,649,688 (-106, +106) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8924901 | insertion | SAMN00801237 | Sequencing | Paired-end mapping | 9,493 |
| essv8924902 | insertion | SAMN00001534 | Sequencing | Paired-end mapping | 9,499 |
| essv8924904 | insertion | SAMN00001579 | Sequencing | Paired-end mapping | 10,322 |
| essv8924905 | insertion | SAMN00001552 | Sequencing | Paired-end mapping | 19,162 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8924901 | Remapped | Perfect | NC_000005.10:g.(74 317889_74318098)_( 74318001_74318213) ins51 | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 74,317,995 (-106, +103) | 74,318,107 (-106, +106) |
| essv8924902 | Remapped | Perfect | NC_000005.10:g.(74 317889_74318098)_( 74318001_74318213) ins51 | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 74,317,995 (-106, +103) | 74,318,107 (-106, +106) |
| essv8924904 | Remapped | Perfect | NC_000005.10:g.(74 317889_74318098)_( 74318001_74318213) ins51 | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 74,317,995 (-106, +103) | 74,318,107 (-106, +106) |
| essv8924905 | Remapped | Perfect | NC_000005.10:g.(74 317889_74318098)_( 74318001_74318213) ins51 | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 74,317,995 (-106, +103) | 74,318,107 (-106, +106) |
| essv8924901 | Remapped | Perfect | NC_000005.9:g.(736 13714_73613923)_(7 3613826_73614038)i ns51 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 73,613,820 (-106, +103) | 73,613,932 (-106, +106) |
| essv8924902 | Remapped | Perfect | NC_000005.9:g.(736 13714_73613923)_(7 3613826_73614038)i ns51 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 73,613,820 (-106, +103) | 73,613,932 (-106, +106) |
| essv8924904 | Remapped | Perfect | NC_000005.9:g.(736 13714_73613923)_(7 3613826_73614038)i ns51 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 73,613,820 (-106, +103) | 73,613,932 (-106, +106) |
| essv8924905 | Remapped | Perfect | NC_000005.9:g.(736 13714_73613923)_(7 3613826_73614038)i ns51 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 73,613,820 (-106, +103) | 73,613,932 (-106, +106) |
| essv8924901 | Submitted genomic | NC_000005.8:g.(736 49470_73649679)_(7 3649582_73649794)i ns51 | NCBI36 (hg18) | NC_000005.8 | Chr5 | 73,649,576 (-106, +103) | 73,649,688 (-106, +106) | ||
| essv8924902 | Submitted genomic | NC_000005.8:g.(736 49470_73649679)_(7 3649582_73649794)i ns51 | NCBI36 (hg18) | NC_000005.8 | Chr5 | 73,649,576 (-106, +103) | 73,649,688 (-106, +106) | ||
| essv8924904 | Submitted genomic | NC_000005.8:g.(736 49470_73649679)_(7 3649582_73649794)i ns51 | NCBI36 (hg18) | NC_000005.8 | Chr5 | 73,649,576 (-106, +103) | 73,649,688 (-106, +106) | ||
| essv8924905 | Submitted genomic | NC_000005.8:g.(736 49470_73649679)_(7 3649582_73649794)i ns51 | NCBI36 (hg18) | NC_000005.8 | Chr5 | 73,649,576 (-106, +103) | 73,649,688 (-106, +106) |