esv3447578
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:121
- 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: 72 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 72 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 25 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 |
---|---|---|---|---|---|---|---|---|---|
esv3447578 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 38,395,963 (-126, +124) | 38,396,083 (-126, +126) |
esv3447578 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 38,396,065 (-126, +124) | 38,396,185 (-126, +126) |
esv3447578 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 38,431,822 (-126, +124) | 38,431,942 (-126, +126) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv8675922 | insertion | SAMN00001695 | Sequencing | Paired-end mapping | 37,049 |
essv8675923 | insertion | SAMN00001694 | Sequencing | Paired-end mapping | 29,487 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv8675922 | Remapped | Perfect | NC_000005.10:g.(38 395837_38396087)_( 38395957_38396209) ins62 | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 38,395,963 (-126, +124) | 38,396,083 (-126, +126) |
essv8675923 | Remapped | Perfect | NC_000005.10:g.(38 395837_38396087)_( 38395957_38396209) ins62 | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 38,395,963 (-126, +124) | 38,396,083 (-126, +126) |
essv8675922 | Remapped | Perfect | NC_000005.9:g.(383 95939_38396189)_(3 8396059_38396311)i ns62 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 38,396,065 (-126, +124) | 38,396,185 (-126, +126) |
essv8675923 | Remapped | Perfect | NC_000005.9:g.(383 95939_38396189)_(3 8396059_38396311)i ns62 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 38,396,065 (-126, +124) | 38,396,185 (-126, +126) |
essv8675922 | Submitted genomic | NC_000005.8:g.(384 31696_38431946)_(3 8431816_38432068)i ns62 | NCBI36 (hg18) | NC_000005.8 | Chr5 | 38,431,822 (-126, +124) | 38,431,942 (-126, +126) | ||
essv8675923 | Submitted genomic | NC_000005.8:g.(384 31696_38431946)_(3 8431816_38432068)i ns62 | NCBI36 (hg18) | NC_000005.8 | Chr5 | 38,431,822 (-126, +124) | 38,431,942 (-126, +126) |