esv3356969
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:21
- Validation:Fail
- Clinical Assertions: No
- Region Size:17,321
- 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: 152 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 152 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 56 SVs from 15 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3356969 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 104,915,882 (-15, +5) | 104,933,202 (-14, +5) |
esv3356969 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 104,786,609 (-15, +5) | 104,803,929 (-14, +5) |
esv3356969 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 104,291,819 (-15, +5) | 104,309,139 (-14, +5) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv7719296 | deletion | SAMN00801099 | Sequencing | Split read mapping | 14,647 |
essv7719297 | deletion | SAMN00001626 | Sequencing | Split read mapping | 11,564 |
essv7719299 | deletion | SAMN00001644 | Sequencing | Split read mapping | 14,069 |
essv7719300 | deletion | SAMN00001601 | Sequencing | Split read mapping | 14,986 |
essv7719301 | deletion | SAMN00001556 | Sequencing | Split read mapping | 17,127 |
essv7719302 | deletion | SAMN00801049 | Sequencing | Split read mapping | 10,931 |
essv7719303 | deletion | SAMN00800266 | Sequencing | Split read mapping | 11,909 |
essv7719304 | deletion | SAMN00801031 | Sequencing | Split read mapping | 9,208 |
essv7719305 | deletion | SAMN00801684 | Sequencing | Split read mapping | 16,980 |
essv7719306 | deletion | SAMN00801888 | Sequencing | Split read mapping | 69,298 |
essv7719307 | deletion | SAMN00801317 | Sequencing | Split read mapping | 13,343 |
essv7719308 | deletion | SAMN00001648 | Sequencing | Split read mapping | 15,747 |
essv7719311 | deletion | SAMN00001590 | Sequencing | Split read mapping | 10,131 |
essv7719312 | deletion | SAMN00801912 | Sequencing | Split read mapping | 25,841 |
essv7719313 | deletion | SAMN00801680 | Sequencing | Split read mapping | 19,937 |
essv7719314 | deletion | SAMN00001581 | Sequencing | Split read mapping | 12,254 |
essv7719315 | deletion | SAMN00001635 | Sequencing | Split read mapping | 14,152 |
essv7719316 | deletion | SAMN00801646 | Sequencing | Split read mapping | 11,757 |
essv7719317 | deletion | SAMN00801704 | Sequencing | Split read mapping | 16,979 |
essv7719318 | deletion | SAMN00001534 | Sequencing | Split read mapping | 9,499 |
essv7719319 | deletion | SAMN00001633 | Sequencing | Split read mapping | 13,751 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv7719296 | Remapped | Perfect | NC_000011.10:g.(10 4915867_104915887) _(104933188_104933 207)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 104,915,882 (-15, +5) | 104,933,202 (-14, +5) |
essv7719297 | Remapped | Perfect | NC_000011.10:g.(10 4915867_104915887) _(104933188_104933 207)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 104,915,882 (-15, +5) | 104,933,202 (-14, +5) |
essv7719299 | Remapped | Perfect | NC_000011.10:g.(10 4915867_104915887) _(104933188_104933 207)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 104,915,882 (-15, +5) | 104,933,202 (-14, +5) |
essv7719300 | Remapped | Perfect | NC_000011.10:g.(10 4915867_104915887) _(104933188_104933 207)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 104,915,882 (-15, +5) | 104,933,202 (-14, +5) |
essv7719301 | Remapped | Perfect | NC_000011.10:g.(10 4915867_104915887) _(104933188_104933 207)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 104,915,882 (-15, +5) | 104,933,202 (-14, +5) |
essv7719302 | Remapped | Perfect | NC_000011.10:g.(10 4915867_104915887) _(104933188_104933 207)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 104,915,882 (-15, +5) | 104,933,202 (-14, +5) |
essv7719303 | Remapped | Perfect | NC_000011.10:g.(10 4915867_104915887) _(104933188_104933 207)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 104,915,882 (-15, +5) | 104,933,202 (-14, +5) |
essv7719304 | Remapped | Perfect | NC_000011.10:g.(10 4915867_104915887) _(104933188_104933 207)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 104,915,882 (-15, +5) | 104,933,202 (-14, +5) |
essv7719305 | Remapped | Perfect | NC_000011.10:g.(10 4915867_104915887) _(104933188_104933 207)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 104,915,882 (-15, +5) | 104,933,202 (-14, +5) |
essv7719306 | Remapped | Perfect | NC_000011.10:g.(10 4915867_104915887) _(104933188_104933 207)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 104,915,882 (-15, +5) | 104,933,202 (-14, +5) |
essv7719307 | Remapped | Perfect | NC_000011.10:g.(10 4915867_104915887) _(104933188_104933 207)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 104,915,882 (-15, +5) | 104,933,202 (-14, +5) |
essv7719308 | Remapped | Perfect | NC_000011.10:g.(10 4915867_104915887) _(104933188_104933 207)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 104,915,882 (-15, +5) | 104,933,202 (-14, +5) |
essv7719311 | Remapped | Perfect | NC_000011.10:g.(10 4915867_104915887) _(104933188_104933 207)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 104,915,882 (-15, +5) | 104,933,202 (-14, +5) |
essv7719312 | Remapped | Perfect | NC_000011.10:g.(10 4915867_104915887) _(104933188_104933 207)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 104,915,882 (-15, +5) | 104,933,202 (-14, +5) |
essv7719313 | Remapped | Perfect | NC_000011.10:g.(10 4915867_104915887) _(104933188_104933 207)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 104,915,882 (-15, +5) | 104,933,202 (-14, +5) |
essv7719314 | Remapped | Perfect | NC_000011.10:g.(10 4915867_104915887) _(104933188_104933 207)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 104,915,882 (-15, +5) | 104,933,202 (-14, +5) |
essv7719315 | Remapped | Perfect | NC_000011.10:g.(10 4915867_104915887) _(104933188_104933 207)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 104,915,882 (-15, +5) | 104,933,202 (-14, +5) |
essv7719316 | Remapped | Perfect | NC_000011.10:g.(10 4915867_104915887) _(104933188_104933 207)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 104,915,882 (-15, +5) | 104,933,202 (-14, +5) |
essv7719317 | Remapped | Perfect | NC_000011.10:g.(10 4915867_104915887) _(104933188_104933 207)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 104,915,882 (-15, +5) | 104,933,202 (-14, +5) |
essv7719318 | Remapped | Perfect | NC_000011.10:g.(10 4915867_104915887) _(104933188_104933 207)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 104,915,882 (-15, +5) | 104,933,202 (-14, +5) |
essv7719319 | Remapped | Perfect | NC_000011.10:g.(10 4915867_104915887) _(104933188_104933 207)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 104,915,882 (-15, +5) | 104,933,202 (-14, +5) |
essv7719296 | Remapped | Perfect | NC_000011.9:g.(104 786594_104786614)_ (104803915_1048039 34)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 104,786,609 (-15, +5) | 104,803,929 (-14, +5) |
essv7719297 | Remapped | Perfect | NC_000011.9:g.(104 786594_104786614)_ (104803915_1048039 34)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 104,786,609 (-15, +5) | 104,803,929 (-14, +5) |
essv7719299 | Remapped | Perfect | NC_000011.9:g.(104 786594_104786614)_ (104803915_1048039 34)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 104,786,609 (-15, +5) | 104,803,929 (-14, +5) |
essv7719300 | Remapped | Perfect | NC_000011.9:g.(104 786594_104786614)_ (104803915_1048039 34)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 104,786,609 (-15, +5) | 104,803,929 (-14, +5) |
essv7719301 | Remapped | Perfect | NC_000011.9:g.(104 786594_104786614)_ (104803915_1048039 34)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 104,786,609 (-15, +5) | 104,803,929 (-14, +5) |
essv7719302 | Remapped | Perfect | NC_000011.9:g.(104 786594_104786614)_ (104803915_1048039 34)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 104,786,609 (-15, +5) | 104,803,929 (-14, +5) |
essv7719303 | Remapped | Perfect | NC_000011.9:g.(104 786594_104786614)_ (104803915_1048039 34)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 104,786,609 (-15, +5) | 104,803,929 (-14, +5) |
essv7719304 | Remapped | Perfect | NC_000011.9:g.(104 786594_104786614)_ (104803915_1048039 34)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 104,786,609 (-15, +5) | 104,803,929 (-14, +5) |
essv7719305 | Remapped | Perfect | NC_000011.9:g.(104 786594_104786614)_ (104803915_1048039 34)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 104,786,609 (-15, +5) | 104,803,929 (-14, +5) |
essv7719306 | Remapped | Perfect | NC_000011.9:g.(104 786594_104786614)_ (104803915_1048039 34)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 104,786,609 (-15, +5) | 104,803,929 (-14, +5) |
essv7719307 | Remapped | Perfect | NC_000011.9:g.(104 786594_104786614)_ (104803915_1048039 34)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 104,786,609 (-15, +5) | 104,803,929 (-14, +5) |
essv7719308 | Remapped | Perfect | NC_000011.9:g.(104 786594_104786614)_ (104803915_1048039 34)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 104,786,609 (-15, +5) | 104,803,929 (-14, +5) |
essv7719311 | Remapped | Perfect | NC_000011.9:g.(104 786594_104786614)_ (104803915_1048039 34)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 104,786,609 (-15, +5) | 104,803,929 (-14, +5) |
essv7719312 | Remapped | Perfect | NC_000011.9:g.(104 786594_104786614)_ (104803915_1048039 34)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 104,786,609 (-15, +5) | 104,803,929 (-14, +5) |
essv7719313 | Remapped | Perfect | NC_000011.9:g.(104 786594_104786614)_ (104803915_1048039 34)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 104,786,609 (-15, +5) | 104,803,929 (-14, +5) |
essv7719314 | Remapped | Perfect | NC_000011.9:g.(104 786594_104786614)_ (104803915_1048039 34)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 104,786,609 (-15, +5) | 104,803,929 (-14, +5) |
essv7719315 | Remapped | Perfect | NC_000011.9:g.(104 786594_104786614)_ (104803915_1048039 34)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 104,786,609 (-15, +5) | 104,803,929 (-14, +5) |
essv7719316 | Remapped | Perfect | NC_000011.9:g.(104 786594_104786614)_ (104803915_1048039 34)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 104,786,609 (-15, +5) | 104,803,929 (-14, +5) |
essv7719317 | Remapped | Perfect | NC_000011.9:g.(104 786594_104786614)_ (104803915_1048039 34)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 104,786,609 (-15, +5) | 104,803,929 (-14, +5) |
essv7719318 | Remapped | Perfect | NC_000011.9:g.(104 786594_104786614)_ (104803915_1048039 34)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 104,786,609 (-15, +5) | 104,803,929 (-14, +5) |
essv7719319 | Remapped | Perfect | NC_000011.9:g.(104 786594_104786614)_ (104803915_1048039 34)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 104,786,609 (-15, +5) | 104,803,929 (-14, +5) |
essv7719296 | Submitted genomic | NC_000011.8:g.(104 291804_104291824)_ (104309125_1043091 44)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 104,291,819 (-15, +5) | 104,309,139 (-14, +5) | ||
essv7719297 | Submitted genomic | NC_000011.8:g.(104 291804_104291824)_ (104309125_1043091 44)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 104,291,819 (-15, +5) | 104,309,139 (-14, +5) | ||
essv7719299 | Submitted genomic | NC_000011.8:g.(104 291804_104291824)_ (104309125_1043091 44)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 104,291,819 (-15, +5) | 104,309,139 (-14, +5) | ||
essv7719300 | Submitted genomic | NC_000011.8:g.(104 291804_104291824)_ (104309125_1043091 44)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 104,291,819 (-15, +5) | 104,309,139 (-14, +5) | ||
essv7719301 | Submitted genomic | NC_000011.8:g.(104 291804_104291824)_ (104309125_1043091 44)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 104,291,819 (-15, +5) | 104,309,139 (-14, +5) | ||
essv7719302 | Submitted genomic | NC_000011.8:g.(104 291804_104291824)_ (104309125_1043091 44)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 104,291,819 (-15, +5) | 104,309,139 (-14, +5) | ||
essv7719303 | Submitted genomic | NC_000011.8:g.(104 291804_104291824)_ (104309125_1043091 44)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 104,291,819 (-15, +5) | 104,309,139 (-14, +5) | ||
essv7719304 | Submitted genomic | NC_000011.8:g.(104 291804_104291824)_ (104309125_1043091 44)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 104,291,819 (-15, +5) | 104,309,139 (-14, +5) | ||
essv7719305 | Submitted genomic | NC_000011.8:g.(104 291804_104291824)_ (104309125_1043091 44)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 104,291,819 (-15, +5) | 104,309,139 (-14, +5) | ||
essv7719306 | Submitted genomic | NC_000011.8:g.(104 291804_104291824)_ (104309125_1043091 44)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 104,291,819 (-15, +5) | 104,309,139 (-14, +5) | ||
essv7719307 | Submitted genomic | NC_000011.8:g.(104 291804_104291824)_ (104309125_1043091 44)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 104,291,819 (-15, +5) | 104,309,139 (-14, +5) | ||
essv7719308 | Submitted genomic | NC_000011.8:g.(104 291804_104291824)_ (104309125_1043091 44)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 104,291,819 (-15, +5) | 104,309,139 (-14, +5) | ||
essv7719311 | Submitted genomic | NC_000011.8:g.(104 291804_104291824)_ (104309125_1043091 44)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 104,291,819 (-15, +5) | 104,309,139 (-14, +5) | ||
essv7719312 | Submitted genomic | NC_000011.8:g.(104 291804_104291824)_ (104309125_1043091 44)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 104,291,819 (-15, +5) | 104,309,139 (-14, +5) | ||
essv7719313 | Submitted genomic | NC_000011.8:g.(104 291804_104291824)_ (104309125_1043091 44)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 104,291,819 (-15, +5) | 104,309,139 (-14, +5) | ||
essv7719314 | Submitted genomic | NC_000011.8:g.(104 291804_104291824)_ (104309125_1043091 44)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 104,291,819 (-15, +5) | 104,309,139 (-14, +5) | ||
essv7719315 | Submitted genomic | NC_000011.8:g.(104 291804_104291824)_ (104309125_1043091 44)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 104,291,819 (-15, +5) | 104,309,139 (-14, +5) | ||
essv7719316 | Submitted genomic | NC_000011.8:g.(104 291804_104291824)_ (104309125_1043091 44)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 104,291,819 (-15, +5) | 104,309,139 (-14, +5) | ||
essv7719317 | Submitted genomic | NC_000011.8:g.(104 291804_104291824)_ (104309125_1043091 44)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 104,291,819 (-15, +5) | 104,309,139 (-14, +5) | ||
essv7719318 | Submitted genomic | NC_000011.8:g.(104 291804_104291824)_ (104309125_1043091 44)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 104,291,819 (-15, +5) | 104,309,139 (-14, +5) | ||
essv7719319 | Submitted genomic | NC_000011.8:g.(104 291804_104291824)_ (104309125_1043091 44)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 104,291,819 (-15, +5) | 104,309,139 (-14, +5) |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv7719318 | 36 | SAMN00001534 | Digital array | Other | Fail |
essv7719318 | 38 | SAMN00001534 | Digital array | Other | Fail |
essv7719301 | 36 | SAMN00001556 | Digital array | Other | Fail |
essv7719301 | 38 | SAMN00001556 | Digital array | Other | Fail |
essv7719314 | 36 | SAMN00001581 | Digital array | Other | Fail |
essv7719314 | 38 | SAMN00001581 | Digital array | Other | Fail |
essv7719311 | 36 | SAMN00001590 | Digital array | Other | Fail |
essv7719311 | 38 | SAMN00001590 | Digital array | Other | Fail |
essv7719300 | 36 | SAMN00001601 | Digital array | Other | Fail |
essv7719300 | 38 | SAMN00001601 | Digital array | Other | Fail |
essv7719297 | 36 | SAMN00001626 | Digital array | Other | Fail |
essv7719297 | 38 | SAMN00001626 | Digital array | Other | Fail |
essv7719319 | 36 | SAMN00001633 | Digital array | Other | Fail |
essv7719319 | 38 | SAMN00001633 | Digital array | Other | Fail |
essv7719315 | 36 | SAMN00001635 | Digital array | Other | Fail |
essv7719315 | 38 | SAMN00001635 | Digital array | Other | Fail |
essv7719299 | 36 | SAMN00001644 | Digital array | Other | Fail |
essv7719299 | 38 | SAMN00001644 | Digital array | Other | Fail |
essv7719308 | 36 | SAMN00001648 | Digital array | Other | Fail |
essv7719308 | 38 | SAMN00001648 | Digital array | Other | Fail |
essv7719303 | 36 | SAMN00800266 | Digital array | Other | Fail |
essv7719303 | 38 | SAMN00800266 | Digital array | Other | Fail |
essv7719304 | 36 | SAMN00801031 | Digital array | Other | Fail |
essv7719304 | 38 | SAMN00801031 | Digital array | Other | Fail |
essv7719302 | 36 | SAMN00801049 | Digital array | Other | Fail |
essv7719302 | 38 | SAMN00801049 | Digital array | Other | Fail |
essv7719296 | 36 | SAMN00801099 | Digital array | Other | Fail |
essv7719296 | 38 | SAMN00801099 | Digital array | Other | Fail |
essv7719307 | 36 | SAMN00801317 | Digital array | Other | Fail |
essv7719307 | 38 | SAMN00801317 | Digital array | Other | Fail |
essv7719316 | 36 | SAMN00801646 | Digital array | Other | Fail |
essv7719316 | 38 | SAMN00801646 | Digital array | Other | Fail |
essv7719313 | 36 | SAMN00801680 | Digital array | Other | Fail |
essv7719313 | 38 | SAMN00801680 | Digital array | Other | Fail |
essv7719305 | 36 | SAMN00801684 | Digital array | Other | Fail |
essv7719305 | 38 | SAMN00801684 | Digital array | Other | Fail |
essv7719317 | 36 | SAMN00801704 | Digital array | Other | Fail |
essv7719317 | 38 | SAMN00801704 | Digital array | Other | Fail |
essv7719306 | 36 | SAMN00801888 | Digital array | Other | Fail |
essv7719306 | 38 | SAMN00801888 | Digital array | Other | Fail |
essv7719312 | 36 | SAMN00801912 | Digital array | Other | Fail |
essv7719312 | 38 | SAMN00801912 | Digital array | Other | Fail |