esv3437603
- 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:112
- 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: 146 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 146 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 61 SVs from 7 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3437603 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 21,022,024 (-18, +18) | 21,022,135 (-18, +18) |
esv3437603 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 18,601,985 (-18, +18) | 18,602,096 (-18, +18) |
esv3437603 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 16,855,983 (-18, +18) | 16,856,094 (-18, +18) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv8972967 | insertion | SAMN00001684 | Sequencing | Paired-end mapping | 9,989 |
essv8972968 | insertion | SAMN00001599 | Sequencing | Paired-end mapping | 14,998 |
essv8972970 | insertion | SAMN00001697 | Sequencing | Paired-end mapping | 21,017 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv8972967 | Remapped | Perfect | NC_000018.10:g.(21 022006_21022042)_( 21022117_21022153) ins279 | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 21,022,024 (-18, +18) | 21,022,135 (-18, +18) |
essv8972968 | Remapped | Perfect | NC_000018.10:g.(21 022006_21022042)_( 21022117_21022153) ins279 | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 21,022,024 (-18, +18) | 21,022,135 (-18, +18) |
essv8972970 | Remapped | Perfect | NC_000018.10:g.(21 022006_21022042)_( 21022117_21022153) ins279 | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 21,022,024 (-18, +18) | 21,022,135 (-18, +18) |
essv8972967 | Remapped | Perfect | NC_000018.9:g.(186 01967_18602003)_(1 8602078_18602114)i ns279 | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 18,601,985 (-18, +18) | 18,602,096 (-18, +18) |
essv8972968 | Remapped | Perfect | NC_000018.9:g.(186 01967_18602003)_(1 8602078_18602114)i ns279 | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 18,601,985 (-18, +18) | 18,602,096 (-18, +18) |
essv8972970 | Remapped | Perfect | NC_000018.9:g.(186 01967_18602003)_(1 8602078_18602114)i ns279 | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 18,601,985 (-18, +18) | 18,602,096 (-18, +18) |
essv8972967 | Submitted genomic | NC_000018.8:g.(168 55965_16856001)_(1 6856076_16856112)i ns279 | NCBI36 (hg18) | NC_000018.8 | Chr18 | 16,855,983 (-18, +18) | 16,856,094 (-18, +18) | ||
essv8972968 | Submitted genomic | NC_000018.8:g.(168 55965_16856001)_(1 6856076_16856112)i ns279 | NCBI36 (hg18) | NC_000018.8 | Chr18 | 16,855,983 (-18, +18) | 16,856,094 (-18, +18) | ||
essv8972970 | Submitted genomic | NC_000018.8:g.(168 55965_16856001)_(1 6856076_16856112)i ns279 | NCBI36 (hg18) | NC_000018.8 | Chr18 | 16,855,983 (-18, +18) | 16,856,094 (-18, +18) |