esv12068
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:14
- Validation:Yes
- Clinical Assertions: No
- Region Size:17,026
- Publication(s):Conrad et al. 2009
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: 347 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 347 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 81 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv12068 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 100,989,556 | 101,006,581 |
| esv12068 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 100,632,837 | 100,649,862 |
| esv12068 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 100,419,557 | 100,436,582 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv73394 | copy number gain | NA12156 | Oligo aCGH | Probe signal intensity | 1,085 |
| essv60801 | copy number loss | NA18523 | Oligo aCGH | Probe signal intensity | 1,446 |
| essv58457 | copy number loss | NA19108 | Oligo aCGH | Probe signal intensity | 1,563 |
| essv56583 | copy number loss | NA12776 | Oligo aCGH | Probe signal intensity | 1,114 |
| essv47133 | copy number loss | NA18861 | Oligo aCGH | Probe signal intensity | 1,407 |
| essv42002 | copy number loss | NA18505 | Oligo aCGH | Probe signal intensity | 1,411 |
| essv77064 | copy number loss | NA18511 | Oligo aCGH | Probe signal intensity | 986 |
| essv35812 | copy number loss | NA18907 | Oligo aCGH | Probe signal intensity | 1,412 |
| essv55566 | copy number loss | NA19099 | Oligo aCGH | Probe signal intensity | 1,498 |
| essv38223 | copy number loss | NA19257 | Oligo aCGH | Probe signal intensity | 1,254 |
| essv80417 | copy number loss | NA11995 | Oligo aCGH | Probe signal intensity | 1,228 |
| essv53178 | copy number loss | NA18508 | Oligo aCGH | Probe signal intensity | 1,478 |
| essv79014 | copy number loss | NA12749 | Oligo aCGH | Probe signal intensity | 1,232 |
| essv39065 | copy number loss | NA12287 | Oligo aCGH | Probe signal intensity | 1,073 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv73394 | Remapped | Perfect | NC_000007.14:g.(?_ 100987666)_(101013 075_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,987,666 | 101,013,075 |
| essv60801 | Remapped | Perfect | NC_000007.14:g.(?_ 100989556)_(101004 870_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,989,556 | 101,004,870 |
| essv58457 | Remapped | Perfect | NC_000007.14:g.(?_ 100990240)_(101005 586_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,990,240 | 101,005,586 |
| essv56583 | Remapped | Perfect | NC_000007.14:g.(?_ 100990375)_(101004 220_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,990,375 | 101,004,220 |
| essv47133 | Remapped | Perfect | NC_000007.14:g.(?_ 100990460)_(101005 360_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,990,460 | 101,005,360 |
| essv42002 | Remapped | Perfect | NC_000007.14:g.(?_ 100990570)_(101006 121_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,990,570 | 101,006,121 |
| essv77064 | Remapped | Perfect | NC_000007.14:g.(?_ 100990651)_(101004 360_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,990,651 | 101,004,360 |
| essv35812 | Remapped | Perfect | NC_000007.14:g.(?_ 100990651)_(101005 586_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,990,651 | 101,005,586 |
| essv55566 | Remapped | Perfect | NC_000007.14:g.(?_ 100990685)_(101004 590_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,990,685 | 101,004,590 |
| essv38223 | Remapped | Perfect | NC_000007.14:g.(?_ 100990750)_(101005 650_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,990,750 | 101,005,650 |
| essv80417 | Remapped | Perfect | NC_000007.14:g.(?_ 100990825)_(101005 500_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,990,825 | 101,005,500 |
| essv53178 | Remapped | Perfect | NC_000007.14:g.(?_ 100990825)_(101005 531_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,990,825 | 101,005,531 |
| essv79014 | Remapped | Perfect | NC_000007.14:g.(?_ 100991095)_(101004 870_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,991,095 | 101,004,870 |
| essv39065 | Remapped | Perfect | NC_000007.14:g.(?_ 100991435)_(101006 581_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,991,435 | 101,006,581 |
| essv73394 | Remapped | Perfect | NC_000007.13:g.(?_ 100630947)_(100656 356_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,630,947 | 100,656,356 |
| essv60801 | Remapped | Perfect | NC_000007.13:g.(?_ 100632837)_(100648 151_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,632,837 | 100,648,151 |
| essv58457 | Remapped | Perfect | NC_000007.13:g.(?_ 100633521)_(100648 867_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,633,521 | 100,648,867 |
| essv56583 | Remapped | Perfect | NC_000007.13:g.(?_ 100633656)_(100647 501_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,633,656 | 100,647,501 |
| essv47133 | Remapped | Perfect | NC_000007.13:g.(?_ 100633741)_(100648 641_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,633,741 | 100,648,641 |
| essv42002 | Remapped | Perfect | NC_000007.13:g.(?_ 100633851)_(100649 402_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,633,851 | 100,649,402 |
| essv77064 | Remapped | Perfect | NC_000007.13:g.(?_ 100633932)_(100647 641_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,633,932 | 100,647,641 |
| essv35812 | Remapped | Perfect | NC_000007.13:g.(?_ 100633932)_(100648 867_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,633,932 | 100,648,867 |
| essv55566 | Remapped | Perfect | NC_000007.13:g.(?_ 100633966)_(100647 871_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,633,966 | 100,647,871 |
| essv38223 | Remapped | Perfect | NC_000007.13:g.(?_ 100634031)_(100648 931_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,634,031 | 100,648,931 |
| essv80417 | Remapped | Perfect | NC_000007.13:g.(?_ 100634106)_(100648 781_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,634,106 | 100,648,781 |
| essv53178 | Remapped | Perfect | NC_000007.13:g.(?_ 100634106)_(100648 812_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,634,106 | 100,648,812 |
| essv79014 | Remapped | Perfect | NC_000007.13:g.(?_ 100634376)_(100648 151_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,634,376 | 100,648,151 |
| essv39065 | Remapped | Perfect | NC_000007.13:g.(?_ 100634716)_(100649 862_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 100,634,716 | 100,649,862 |
| essv73394 | Submitted genomic | NC_000007.12:g.(?_ 100417667)_(100443 076_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,417,667 | 100,443,076 | ||
| essv60801 | Submitted genomic | NC_000007.12:g.(?_ 100419557)_(100434 871_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,419,557 | 100,434,871 | ||
| essv58457 | Submitted genomic | NC_000007.12:g.(?_ 100420241)_(100435 587_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,420,241 | 100,435,587 | ||
| essv56583 | Submitted genomic | NC_000007.12:g.(?_ 100420376)_(100434 221_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,420,376 | 100,434,221 | ||
| essv47133 | Submitted genomic | NC_000007.12:g.(?_ 100420461)_(100435 361_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,420,461 | 100,435,361 | ||
| essv42002 | Submitted genomic | NC_000007.12:g.(?_ 100420571)_(100436 122_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,420,571 | 100,436,122 | ||
| essv77064 | Submitted genomic | NC_000007.12:g.(?_ 100420652)_(100434 361_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,420,652 | 100,434,361 | ||
| essv35812 | Submitted genomic | NC_000007.12:g.(?_ 100420652)_(100435 587_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,420,652 | 100,435,587 | ||
| essv55566 | Submitted genomic | NC_000007.12:g.(?_ 100420686)_(100434 591_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,420,686 | 100,434,591 | ||
| essv38223 | Submitted genomic | NC_000007.12:g.(?_ 100420751)_(100435 651_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,420,751 | 100,435,651 | ||
| essv80417 | Submitted genomic | NC_000007.12:g.(?_ 100420826)_(100435 501_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,420,826 | 100,435,501 | ||
| essv53178 | Submitted genomic | NC_000007.12:g.(?_ 100420826)_(100435 532_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,420,826 | 100,435,532 | ||
| essv79014 | Submitted genomic | NC_000007.12:g.(?_ 100421096)_(100434 871_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,421,096 | 100,434,871 | ||
| essv39065 | Submitted genomic | NC_000007.12:g.(?_ 100421436)_(100436 582_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 100,421,436 | 100,436,582 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv80417 | 2 | NA11995 | Oligo aCGH | Probe signal intensity | Pass |
| essv73394 | 2 | NA12156 | Oligo aCGH | Probe signal intensity | Pass |
| essv39065 | 2 | NA12287 | Oligo aCGH | Probe signal intensity | Pass |
| essv79014 | 2 | NA12749 | Oligo aCGH | Probe signal intensity | Pass |
| essv56583 | 2 | NA12776 | Oligo aCGH | Probe signal intensity | Pass |
| essv42002 | 2 | NA18505 | Oligo aCGH | Probe signal intensity | Pass |
| essv53178 | 2 | NA18508 | Oligo aCGH | Probe signal intensity | Pass |
| essv77064 | 2 | NA18511 | Oligo aCGH | Probe signal intensity | Pass |
| essv60801 | 2 | NA18523 | Oligo aCGH | Probe signal intensity | Pass |
| essv47133 | 2 | NA18861 | Oligo aCGH | Probe signal intensity | Pass |
| essv35812 | 2 | NA18907 | Oligo aCGH | Probe signal intensity | Pass |
| essv55566 | 2 | NA19099 | Oligo aCGH | Probe signal intensity | Pass |
| essv58457 | 2 | NA19108 | Oligo aCGH | Probe signal intensity | Pass |
| essv38223 | 2 | NA19257 | Oligo aCGH | Probe signal intensity | Pass |