esv11349
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:20
- Validation:Not tested
- Clinical Assertions: No
- Region Size:17,539
- 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: 217 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 225 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 90 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv11349 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 64,368,030 | 64,385,568 |
| esv11349 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 63,828,408 | 63,845,946 |
| esv11349 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 63,465,843 | 63,483,381 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv40727 | copy number loss | NA12878 | Oligo aCGH | Probe signal intensity | 1,172 |
| essv80052 | copy number loss | NA11995 | Oligo aCGH | Probe signal intensity | 1,228 |
| essv44196 | copy number loss | NA12489 | Oligo aCGH | Probe signal intensity | 1,098 |
| essv52201 | copy number loss | NA12006 | Oligo aCGH | Probe signal intensity | 1,080 |
| essv33382 | copy number loss | NA19147 | Oligo aCGH | Probe signal intensity | 1,541 |
| essv46509 | copy number loss | NA19129 | Oligo aCGH | Probe signal intensity | 1,564 |
| essv77892 | copy number loss | NA06985 | Oligo aCGH | Probe signal intensity | 1,144 |
| essv62434 | copy number loss | NA15510 | Oligo aCGH | Probe signal intensity | 1,307 |
| essv37192 | copy number loss | NA11894 | Oligo aCGH | Probe signal intensity | 1,114 |
| essv55367 | copy number loss | NA19099 | Oligo aCGH | Probe signal intensity | 1,498 |
| essv57278 | copy number loss | NA11993 | Oligo aCGH | Probe signal intensity | 1,116 |
| essv72305 | copy number loss | NA19225 | Oligo aCGH | Probe signal intensity | 1,558 |
| essv58592 | copy number loss | NA19108 | Oligo aCGH | Probe signal intensity | 1,563 |
| essv63620 | copy number loss | NA07045 | Oligo aCGH | Probe signal intensity | 1,341 |
| essv74410 | copy number loss | NA12004 | Oligo aCGH | Probe signal intensity | 1,123 |
| essv41211 | copy number loss | NA18505 | Oligo aCGH | Probe signal intensity | 1,411 |
| essv77393 | copy number loss | NA18511 | Oligo aCGH | Probe signal intensity | 986 |
| essv56803 | copy number loss | NA12776 | Oligo aCGH | Probe signal intensity | 1,114 |
| essv62170 | copy number loss | NA12239 | Oligo aCGH | Probe signal intensity | 1,252 |
| essv39263 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv40727 | Remapped | Perfect | NC_000007.14:g.(?_ 64367844)_(6438556 8_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 64,367,844 | 64,385,568 |
| essv80052 | Remapped | Perfect | NC_000007.14:g.(?_ 64368030)_(6438538 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 64,368,030 | 64,385,387 |
| essv44196 | Remapped | Perfect | NC_000007.14:g.(?_ 64368196)_(6437925 3_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 64,368,196 | 64,379,253 |
| essv52201 | Remapped | Perfect | NC_000007.14:g.(?_ 64368196)_(6438513 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 64,368,196 | 64,385,137 |
| essv33382 | Remapped | Perfect | NC_000007.14:g.(?_ 64368277)_(6438040 8_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 64,368,277 | 64,380,408 |
| essv46509 | Remapped | Perfect | NC_000007.14:g.(?_ 64368277)_(6438364 0_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 64,368,277 | 64,383,640 |
| essv77892 | Remapped | Perfect | NC_000007.14:g.(?_ 64368277)_(6438364 0_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 64,368,277 | 64,383,640 |
| essv62434 | Remapped | Perfect | NC_000007.14:g.(?_ 64368277)_(6438438 0_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 64,368,277 | 64,384,380 |
| essv37192 | Remapped | Perfect | NC_000007.14:g.(?_ 64368277)_(6438445 5_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 64,368,277 | 64,384,455 |
| essv55367 | Remapped | Perfect | NC_000007.14:g.(?_ 64368277)_(6438451 0_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 64,368,277 | 64,384,510 |
| essv57278 | Remapped | Perfect | NC_000007.14:g.(?_ 64368277)_(6438518 8_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 64,368,277 | 64,385,188 |
| essv72305 | Remapped | Perfect | NC_000007.14:g.(?_ 64368313)_(6437873 3_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 64,368,313 | 64,378,733 |
| essv58592 | Remapped | Perfect | NC_000007.14:g.(?_ 64368313)_(6438427 4_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 64,368,313 | 64,384,274 |
| essv63620 | Remapped | Perfect | NC_000007.14:g.(?_ 64368598)_(6437841 0_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 64,368,598 | 64,378,410 |
| essv74410 | Remapped | Perfect | NC_000007.14:g.(?_ 64368598)_(6438451 0_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 64,368,598 | 64,384,510 |
| essv41211 | Remapped | Perfect | NC_000007.14:g.(?_ 64368949)_(6438558 1_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 64,368,949 | 64,385,581 |
| essv77393 | Remapped | Perfect | NC_000007.14:g.(?_ 64369327)_(6438538 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 64,369,327 | 64,385,387 |
| essv56803 | Remapped | Perfect | NC_000007.14:g.(?_ 64369571)_(6438364 0_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 64,369,571 | 64,383,640 |
| essv62170 | Remapped | Perfect | NC_000007.14:g.(?_ 64369571)_(6438364 0_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 64,369,571 | 64,383,640 |
| essv39263 | Remapped | Perfect | NC_000007.14:g.(?_ 64369571)_(6438445 5_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 64,369,571 | 64,384,455 |
| essv40727 | Remapped | Perfect | NC_000007.13:g.(?_ 63828222)_(6384594 6_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,828,222 | 63,845,946 |
| essv80052 | Remapped | Perfect | NC_000007.13:g.(?_ 63828408)_(6384576 5_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,828,408 | 63,845,765 |
| essv44196 | Remapped | Perfect | NC_000007.13:g.(?_ 63828574)_(6383963 1_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,828,574 | 63,839,631 |
| essv52201 | Remapped | Perfect | NC_000007.13:g.(?_ 63828574)_(6384551 5_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,828,574 | 63,845,515 |
| essv33382 | Remapped | Perfect | NC_000007.13:g.(?_ 63828655)_(6384078 6_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,828,655 | 63,840,786 |
| essv46509 | Remapped | Perfect | NC_000007.13:g.(?_ 63828655)_(6384401 8_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,828,655 | 63,844,018 |
| essv77892 | Remapped | Perfect | NC_000007.13:g.(?_ 63828655)_(6384401 8_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,828,655 | 63,844,018 |
| essv62434 | Remapped | Perfect | NC_000007.13:g.(?_ 63828655)_(6384475 8_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,828,655 | 63,844,758 |
| essv37192 | Remapped | Perfect | NC_000007.13:g.(?_ 63828655)_(6384483 3_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,828,655 | 63,844,833 |
| essv55367 | Remapped | Perfect | NC_000007.13:g.(?_ 63828655)_(6384488 8_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,828,655 | 63,844,888 |
| essv57278 | Remapped | Perfect | NC_000007.13:g.(?_ 63828655)_(6384556 6_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,828,655 | 63,845,566 |
| essv72305 | Remapped | Perfect | NC_000007.13:g.(?_ 63828691)_(6383911 1_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,828,691 | 63,839,111 |
| essv58592 | Remapped | Perfect | NC_000007.13:g.(?_ 63828691)_(6384465 2_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,828,691 | 63,844,652 |
| essv63620 | Remapped | Perfect | NC_000007.13:g.(?_ 63828976)_(6383878 8_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,828,976 | 63,838,788 |
| essv74410 | Remapped | Perfect | NC_000007.13:g.(?_ 63828976)_(6384488 8_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,828,976 | 63,844,888 |
| essv41211 | Remapped | Perfect | NC_000007.13:g.(?_ 63829327)_(6384595 9_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,829,327 | 63,845,959 |
| essv77393 | Remapped | Perfect | NC_000007.13:g.(?_ 63829705)_(6384576 5_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,829,705 | 63,845,765 |
| essv56803 | Remapped | Perfect | NC_000007.13:g.(?_ 63829949)_(6384401 8_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,829,949 | 63,844,018 |
| essv62170 | Remapped | Perfect | NC_000007.13:g.(?_ 63829949)_(6384401 8_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,829,949 | 63,844,018 |
| essv39263 | Remapped | Perfect | NC_000007.13:g.(?_ 63829949)_(6384483 3_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,829,949 | 63,844,833 |
| essv40727 | Submitted genomic | NC_000007.12:g.(?_ 63465657)_(6348338 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 63,465,657 | 63,483,381 | ||
| essv80052 | Submitted genomic | NC_000007.12:g.(?_ 63465843)_(6348320 0_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 63,465,843 | 63,483,200 | ||
| essv44196 | Submitted genomic | NC_000007.12:g.(?_ 63466009)_(6347706 6_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 63,466,009 | 63,477,066 | ||
| essv52201 | Submitted genomic | NC_000007.12:g.(?_ 63466009)_(6348295 0_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 63,466,009 | 63,482,950 | ||
| essv33382 | Submitted genomic | NC_000007.12:g.(?_ 63466090)_(6347822 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 63,466,090 | 63,478,221 | ||
| essv46509 | Submitted genomic | NC_000007.12:g.(?_ 63466090)_(6348145 3_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 63,466,090 | 63,481,453 | ||
| essv77892 | Submitted genomic | NC_000007.12:g.(?_ 63466090)_(6348145 3_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 63,466,090 | 63,481,453 | ||
| essv62434 | Submitted genomic | NC_000007.12:g.(?_ 63466090)_(6348219 3_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 63,466,090 | 63,482,193 | ||
| essv37192 | Submitted genomic | NC_000007.12:g.(?_ 63466090)_(6348226 8_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 63,466,090 | 63,482,268 | ||
| essv55367 | Submitted genomic | NC_000007.12:g.(?_ 63466090)_(6348232 3_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 63,466,090 | 63,482,323 | ||
| essv57278 | Submitted genomic | NC_000007.12:g.(?_ 63466090)_(6348300 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 63,466,090 | 63,483,001 | ||
| essv72305 | Submitted genomic | NC_000007.12:g.(?_ 63466126)_(6347654 6_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 63,466,126 | 63,476,546 | ||
| essv58592 | Submitted genomic | NC_000007.12:g.(?_ 63466126)_(6348208 7_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 63,466,126 | 63,482,087 | ||
| essv63620 | Submitted genomic | NC_000007.12:g.(?_ 63466411)_(6347622 3_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 63,466,411 | 63,476,223 | ||
| essv74410 | Submitted genomic | NC_000007.12:g.(?_ 63466411)_(6348232 3_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 63,466,411 | 63,482,323 | ||
| essv41211 | Submitted genomic | NC_000007.12:g.(?_ 63466762)_(6348339 4_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 63,466,762 | 63,483,394 | ||
| essv77393 | Submitted genomic | NC_000007.12:g.(?_ 63467140)_(6348320 0_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 63,467,140 | 63,483,200 | ||
| essv56803 | Submitted genomic | NC_000007.12:g.(?_ 63467384)_(6348145 3_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 63,467,384 | 63,481,453 | ||
| essv62170 | Submitted genomic | NC_000007.12:g.(?_ 63467384)_(6348145 3_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 63,467,384 | 63,481,453 | ||
| essv39263 | Submitted genomic | NC_000007.12:g.(?_ 63467384)_(6348226 8_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 63,467,384 | 63,482,268 |