esv3469864
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:9
- Validation:Yes
- Clinical Assertions: No
- Region Size:47,894
- 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: 561 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 411 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 560 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 223 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3469864 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 49,688,263 (-123, +117) | 49,736,156 (-133, +118) |
| esv3469864 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 152,444 (-123, +117) | 200,305 (-133, +118) |
| esv3469864 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 49,709,815 (-123, +117) | 49,757,708 (-133, +118) |
| esv3469864 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 49,666,391 (-123, +117) | 49,714,284 (-133, +118) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9188817 | deletion | SAMN00801241 | Sequencing | Paired-end mapping | 14,163 |
| essv9188818 | deletion | SAMN00001627 | Sequencing | Paired-end mapping | 11,565 |
| essv9188819 | deletion | SAMN00800266 | Sequencing | Paired-end mapping | 11,909 |
| essv9188820 | deletion | SAMN00001682 | Sequencing | Paired-end mapping | 4,499 |
| essv9188821 | deletion | SAMN00001592 | Sequencing | Paired-end mapping | 12,716 |
| essv9188822 | deletion | SAMN00001670 | Sequencing | Paired-end mapping | 4,622 |
| essv9188823 | deletion | SAMN00001697 | Sequencing | Paired-end mapping | 21,017 |
| essv9188824 | deletion | SAMN00001556 | Sequencing | Paired-end mapping | 17,127 |
| essv9188825 | deletion | SAMN00801770 | Sequencing | Paired-end mapping | 10,623 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9188817 | Remapped | Good | NW_019805495.1:g.( 152321_152561)_(20 0172_200423)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 152,444 (-123, +117) | 200,305 (-133, +118) |
| essv9188818 | Remapped | Good | NW_019805495.1:g.( 152321_152561)_(20 0172_200423)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 152,444 (-123, +117) | 200,305 (-133, +118) |
| essv9188819 | Remapped | Good | NW_019805495.1:g.( 152321_152561)_(20 0172_200423)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 152,444 (-123, +117) | 200,305 (-133, +118) |
| essv9188820 | Remapped | Good | NW_019805495.1:g.( 152321_152561)_(20 0172_200423)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 152,444 (-123, +117) | 200,305 (-133, +118) |
| essv9188821 | Remapped | Good | NW_019805495.1:g.( 152321_152561)_(20 0172_200423)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 152,444 (-123, +117) | 200,305 (-133, +118) |
| essv9188822 | Remapped | Good | NW_019805495.1:g.( 152321_152561)_(20 0172_200423)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 152,444 (-123, +117) | 200,305 (-133, +118) |
| essv9188823 | Remapped | Good | NW_019805495.1:g.( 152321_152561)_(20 0172_200423)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 152,444 (-123, +117) | 200,305 (-133, +118) |
| essv9188824 | Remapped | Good | NW_019805495.1:g.( 152321_152561)_(20 0172_200423)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 152,444 (-123, +117) | 200,305 (-133, +118) |
| essv9188825 | Remapped | Good | NW_019805495.1:g.( 152321_152561)_(20 0172_200423)del | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 152,444 (-123, +117) | 200,305 (-133, +118) |
| essv9188817 | Remapped | Perfect | NC_000011.10:g.(49 688140_49688380)_( 49736023_49736274) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,688,263 (-123, +117) | 49,736,156 (-133, +118) |
| essv9188818 | Remapped | Perfect | NC_000011.10:g.(49 688140_49688380)_( 49736023_49736274) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,688,263 (-123, +117) | 49,736,156 (-133, +118) |
| essv9188819 | Remapped | Perfect | NC_000011.10:g.(49 688140_49688380)_( 49736023_49736274) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,688,263 (-123, +117) | 49,736,156 (-133, +118) |
| essv9188820 | Remapped | Perfect | NC_000011.10:g.(49 688140_49688380)_( 49736023_49736274) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,688,263 (-123, +117) | 49,736,156 (-133, +118) |
| essv9188821 | Remapped | Perfect | NC_000011.10:g.(49 688140_49688380)_( 49736023_49736274) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,688,263 (-123, +117) | 49,736,156 (-133, +118) |
| essv9188822 | Remapped | Perfect | NC_000011.10:g.(49 688140_49688380)_( 49736023_49736274) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,688,263 (-123, +117) | 49,736,156 (-133, +118) |
| essv9188823 | Remapped | Perfect | NC_000011.10:g.(49 688140_49688380)_( 49736023_49736274) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,688,263 (-123, +117) | 49,736,156 (-133, +118) |
| essv9188824 | Remapped | Perfect | NC_000011.10:g.(49 688140_49688380)_( 49736023_49736274) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,688,263 (-123, +117) | 49,736,156 (-133, +118) |
| essv9188825 | Remapped | Perfect | NC_000011.10:g.(49 688140_49688380)_( 49736023_49736274) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,688,263 (-123, +117) | 49,736,156 (-133, +118) |
| essv9188817 | Remapped | Perfect | NC_000011.9:g.(497 09692_49709932)_(4 9757575_49757826)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,709,815 (-123, +117) | 49,757,708 (-133, +118) |
| essv9188818 | Remapped | Perfect | NC_000011.9:g.(497 09692_49709932)_(4 9757575_49757826)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,709,815 (-123, +117) | 49,757,708 (-133, +118) |
| essv9188819 | Remapped | Perfect | NC_000011.9:g.(497 09692_49709932)_(4 9757575_49757826)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,709,815 (-123, +117) | 49,757,708 (-133, +118) |
| essv9188820 | Remapped | Perfect | NC_000011.9:g.(497 09692_49709932)_(4 9757575_49757826)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,709,815 (-123, +117) | 49,757,708 (-133, +118) |
| essv9188821 | Remapped | Perfect | NC_000011.9:g.(497 09692_49709932)_(4 9757575_49757826)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,709,815 (-123, +117) | 49,757,708 (-133, +118) |
| essv9188822 | Remapped | Perfect | NC_000011.9:g.(497 09692_49709932)_(4 9757575_49757826)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,709,815 (-123, +117) | 49,757,708 (-133, +118) |
| essv9188823 | Remapped | Perfect | NC_000011.9:g.(497 09692_49709932)_(4 9757575_49757826)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,709,815 (-123, +117) | 49,757,708 (-133, +118) |
| essv9188824 | Remapped | Perfect | NC_000011.9:g.(497 09692_49709932)_(4 9757575_49757826)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,709,815 (-123, +117) | 49,757,708 (-133, +118) |
| essv9188825 | Remapped | Perfect | NC_000011.9:g.(497 09692_49709932)_(4 9757575_49757826)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,709,815 (-123, +117) | 49,757,708 (-133, +118) |
| essv9188817 | Submitted genomic | NC_000011.8:g.(496 66268_49666508)_(4 9714151_49714402)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 49,666,391 (-123, +117) | 49,714,284 (-133, +118) | ||
| essv9188818 | Submitted genomic | NC_000011.8:g.(496 66268_49666508)_(4 9714151_49714402)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 49,666,391 (-123, +117) | 49,714,284 (-133, +118) | ||
| essv9188819 | Submitted genomic | NC_000011.8:g.(496 66268_49666508)_(4 9714151_49714402)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 49,666,391 (-123, +117) | 49,714,284 (-133, +118) | ||
| essv9188820 | Submitted genomic | NC_000011.8:g.(496 66268_49666508)_(4 9714151_49714402)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 49,666,391 (-123, +117) | 49,714,284 (-133, +118) | ||
| essv9188821 | Submitted genomic | NC_000011.8:g.(496 66268_49666508)_(4 9714151_49714402)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 49,666,391 (-123, +117) | 49,714,284 (-133, +118) | ||
| essv9188822 | Submitted genomic | NC_000011.8:g.(496 66268_49666508)_(4 9714151_49714402)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 49,666,391 (-123, +117) | 49,714,284 (-133, +118) | ||
| essv9188823 | Submitted genomic | NC_000011.8:g.(496 66268_49666508)_(4 9714151_49714402)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 49,666,391 (-123, +117) | 49,714,284 (-133, +118) | ||
| essv9188824 | Submitted genomic | NC_000011.8:g.(496 66268_49666508)_(4 9714151_49714402)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 49,666,391 (-123, +117) | 49,714,284 (-133, +118) | ||
| essv9188825 | Submitted genomic | NC_000011.8:g.(496 66268_49666508)_(4 9714151_49714402)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 49,666,391 (-123, +117) | 49,714,284 (-133, +118) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv9188824 | 36 | SAMN00001556 | Digital array | Other | Pass |
| essv9188824 | 38 | SAMN00001556 | Digital array | Other | Pass |
| essv9188821 | 36 | SAMN00001592 | Digital array | Other | Pass |
| essv9188821 | 38 | SAMN00001592 | Digital array | Other | Pass |
| essv9188818 | 36 | SAMN00001627 | Digital array | Other | Pass |
| essv9188818 | 38 | SAMN00001627 | Digital array | Other | Pass |
| essv9188822 | 36 | SAMN00001670 | Digital array | Other | Pass |
| essv9188822 | 38 | SAMN00001670 | Digital array | Other | Pass |
| essv9188820 | 36 | SAMN00001682 | Digital array | Other | Pass |
| essv9188820 | 38 | SAMN00001682 | Digital array | Other | Pass |
| essv9188823 | 36 | SAMN00001697 | Digital array | Other | Pass |
| essv9188823 | 38 | SAMN00001697 | Digital array | Other | Pass |
| essv9188819 | 36 | SAMN00800266 | Digital array | Other | Pass |
| essv9188819 | 38 | SAMN00800266 | Digital array | Other | Pass |
| essv9188817 | 36 | SAMN00801241 | Digital array | Other | Pass |
| essv9188817 | 38 | SAMN00801241 | Digital array | Other | Pass |
| essv9188825 | 36 | SAMN00801770 | Digital array | Other | Pass |
| essv9188825 | 38 | SAMN00801770 | Digital array | Other | Pass |
| essv9188824 | 37 | SAMN00001556 | Sequencing | de novo sequence assembly | Pass |
| essv9188821 | 37 | SAMN00001592 | Sequencing | de novo sequence assembly | Pass |
| essv9188818 | 37 | SAMN00001627 | Sequencing | de novo sequence assembly | Pass |
| essv9188822 | 37 | SAMN00001670 | Sequencing | de novo sequence assembly | Pass |
| essv9188820 | 37 | SAMN00001682 | Sequencing | de novo sequence assembly | Pass |
| essv9188823 | 37 | SAMN00001697 | Sequencing | de novo sequence assembly | Pass |
| essv9188819 | 37 | SAMN00800266 | Sequencing | de novo sequence assembly | Pass |
| essv9188817 | 37 | SAMN00801241 | Sequencing | de novo sequence assembly | Pass |
| essv9188825 | 37 | SAMN00801770 | Sequencing | de novo sequence assembly | Pass |