esv3425635
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:559
- 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: 274 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 274 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 183 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3425635 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 36,129,799 (-990, +310) | 36,130,357 (-200, +1300) |
| esv3425635 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 37,502,097 (-990, +310) | 37,502,655 (-200, +1300) |
| esv3425635 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 36,423,967 (-990, +310) | 36,424,525 (-200, +1300) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9553191 | deletion | SAMN00800837 | Sequencing | Read depth | 13,756 |
| essv9553202 | deletion | SAMN00001525 | Sequencing | Read depth | 19,957 |
| essv9553213 | deletion | SAMN00001538 | Sequencing | Read depth | 26,254 |
| essv9553226 | deletion | SAMN00801680 | Sequencing | Read depth | 19,937 |
| essv9553237 | deletion | SAMN00001697 | Sequencing | Read depth | 21,017 |
| essv9553248 | deletion | SAMN00001647 | Sequencing | Read depth | 26,594 |
| essv9553259 | deletion | SAMN00797404 | Sequencing | Read depth | 21,385 |
| essv9553270 | deletion | SAMN00001552 | Sequencing | Read depth | 19,162 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9553191 | Remapped | Perfect | NC_000021.9:g.(361 28809_36130109)_(3 6130157_36131657)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 36,129,799 (-990, +310) | 36,130,357 (-200, +1300) |
| essv9553202 | Remapped | Perfect | NC_000021.9:g.(361 28809_36130109)_(3 6130157_36131657)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 36,129,799 (-990, +310) | 36,130,357 (-200, +1300) |
| essv9553213 | Remapped | Perfect | NC_000021.9:g.(361 28809_36130109)_(3 6130157_36131657)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 36,129,799 (-990, +310) | 36,130,357 (-200, +1300) |
| essv9553226 | Remapped | Perfect | NC_000021.9:g.(361 28809_36130109)_(3 6130157_36131657)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 36,129,799 (-990, +310) | 36,130,357 (-200, +1300) |
| essv9553237 | Remapped | Perfect | NC_000021.9:g.(361 28809_36130109)_(3 6130157_36131657)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 36,129,799 (-990, +310) | 36,130,357 (-200, +1300) |
| essv9553248 | Remapped | Perfect | NC_000021.9:g.(361 28809_36130109)_(3 6130157_36131657)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 36,129,799 (-990, +310) | 36,130,357 (-200, +1300) |
| essv9553259 | Remapped | Perfect | NC_000021.9:g.(361 28809_36130109)_(3 6130157_36131657)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 36,129,799 (-990, +310) | 36,130,357 (-200, +1300) |
| essv9553270 | Remapped | Perfect | NC_000021.9:g.(361 28809_36130109)_(3 6130157_36131657)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 36,129,799 (-990, +310) | 36,130,357 (-200, +1300) |
| essv9553191 | Remapped | Perfect | NC_000021.8:g.(375 01107_37502407)_(3 7502455_37503955)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 37,502,097 (-990, +310) | 37,502,655 (-200, +1300) |
| essv9553202 | Remapped | Perfect | NC_000021.8:g.(375 01107_37502407)_(3 7502455_37503955)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 37,502,097 (-990, +310) | 37,502,655 (-200, +1300) |
| essv9553213 | Remapped | Perfect | NC_000021.8:g.(375 01107_37502407)_(3 7502455_37503955)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 37,502,097 (-990, +310) | 37,502,655 (-200, +1300) |
| essv9553226 | Remapped | Perfect | NC_000021.8:g.(375 01107_37502407)_(3 7502455_37503955)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 37,502,097 (-990, +310) | 37,502,655 (-200, +1300) |
| essv9553237 | Remapped | Perfect | NC_000021.8:g.(375 01107_37502407)_(3 7502455_37503955)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 37,502,097 (-990, +310) | 37,502,655 (-200, +1300) |
| essv9553248 | Remapped | Perfect | NC_000021.8:g.(375 01107_37502407)_(3 7502455_37503955)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 37,502,097 (-990, +310) | 37,502,655 (-200, +1300) |
| essv9553259 | Remapped | Perfect | NC_000021.8:g.(375 01107_37502407)_(3 7502455_37503955)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 37,502,097 (-990, +310) | 37,502,655 (-200, +1300) |
| essv9553270 | Remapped | Perfect | NC_000021.8:g.(375 01107_37502407)_(3 7502455_37503955)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 37,502,097 (-990, +310) | 37,502,655 (-200, +1300) |
| essv9553191 | Submitted genomic | NC_000021.7:g.(364 22977_36424277)_(3 6424325_36425825)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 36,423,967 (-990, +310) | 36,424,525 (-200, +1300) | ||
| essv9553202 | Submitted genomic | NC_000021.7:g.(364 22977_36424277)_(3 6424325_36425825)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 36,423,967 (-990, +310) | 36,424,525 (-200, +1300) | ||
| essv9553213 | Submitted genomic | NC_000021.7:g.(364 22977_36424277)_(3 6424325_36425825)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 36,423,967 (-990, +310) | 36,424,525 (-200, +1300) | ||
| essv9553226 | Submitted genomic | NC_000021.7:g.(364 22977_36424277)_(3 6424325_36425825)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 36,423,967 (-990, +310) | 36,424,525 (-200, +1300) | ||
| essv9553237 | Submitted genomic | NC_000021.7:g.(364 22977_36424277)_(3 6424325_36425825)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 36,423,967 (-990, +310) | 36,424,525 (-200, +1300) | ||
| essv9553248 | Submitted genomic | NC_000021.7:g.(364 22977_36424277)_(3 6424325_36425825)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 36,423,967 (-990, +310) | 36,424,525 (-200, +1300) | ||
| essv9553259 | Submitted genomic | NC_000021.7:g.(364 22977_36424277)_(3 6424325_36425825)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 36,423,967 (-990, +310) | 36,424,525 (-200, +1300) | ||
| essv9553270 | Submitted genomic | NC_000021.7:g.(364 22977_36424277)_(3 6424325_36425825)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 36,423,967 (-990, +310) | 36,424,525 (-200, +1300) |