esv19090
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:15
- Validation:Yes
- Clinical Assertions: No
- Region Size:139,644
- 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: 419 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 418 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 137 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv19090 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 26,876,034 | 27,015,677 |
| esv19090 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 26,843,813 | 26,983,456 |
| esv19090 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 26,951,792 | 27,091,435 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv59642 | copy number gain | NA18523 | Oligo aCGH | Probe signal intensity | 1,446 |
| essv73511 | copy number gain | NA12156 | Oligo aCGH | Probe signal intensity | 1,085 |
| essv39621 | copy number gain | NA12287 | Oligo aCGH | Probe signal intensity | 1,073 |
| essv48816 | copy number gain | NA07037 | Oligo aCGH | Probe signal intensity | 1,154 |
| essv40351 | copy number gain | NA12878 | Oligo aCGH | Probe signal intensity | 1,172 |
| essv42205 | copy number gain | NA18505 | Oligo aCGH | Probe signal intensity | 1,411 |
| essv52103 | copy number gain | NA12006 | Oligo aCGH | Probe signal intensity | 1,080 |
| essv61484 | copy number gain | NA12239 | Oligo aCGH | Probe signal intensity | 1,252 |
| essv45825 | copy number gain | NA19129 | Oligo aCGH | Probe signal intensity | 1,564 |
| essv57321 | copy number gain | NA11993 | Oligo aCGH | Probe signal intensity | 1,116 |
| essv78672 | copy number gain | NA12749 | Oligo aCGH | Probe signal intensity | 1,232 |
| essv56398 | copy number gain | NA12776 | Oligo aCGH | Probe signal intensity | 1,114 |
| essv69651 | copy number gain | NA12044 | Oligo aCGH | Probe signal intensity | 1,055 |
| essv43300 | copy number gain | NA18909 | Oligo aCGH | Probe signal intensity | 1,535 |
| essv49896 | copy number gain | NA18517 | Oligo aCGH | Probe signal intensity | 1,365 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv59642 | Remapped | Perfect | NC_000006.12:g.(?_ 26874437)_(2700256 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 26,874,437 | 27,002,561 |
| essv73511 | Remapped | Perfect | NC_000006.12:g.(?_ 26876034)_(2700186 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 26,876,034 | 27,001,861 |
| essv39621 | Remapped | Perfect | NC_000006.12:g.(?_ 26877609)_(2699432 8_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 26,877,609 | 26,994,328 |
| essv48816 | Remapped | Perfect | NC_000006.12:g.(?_ 26877710)_(2700340 5_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 26,877,710 | 27,003,405 |
| essv40351 | Remapped | Perfect | NC_000006.12:g.(?_ 26883135)_(2700179 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 26,883,135 | 27,001,791 |
| essv42205 | Remapped | Perfect | NC_000006.12:g.(?_ 26883325)_(2702161 8_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 26,883,325 | 27,021,618 |
| essv52103 | Remapped | Perfect | NC_000006.12:g.(?_ 26891139)_(2701567 7_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 26,891,139 | 27,015,677 |
| essv61484 | Remapped | Perfect | NC_000006.12:g.(?_ 26896962)_(2700243 5_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 26,896,962 | 27,002,435 |
| essv45825 | Remapped | Perfect | NC_000006.12:g.(?_ 26897037)_(2700041 7_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 26,897,037 | 27,000,417 |
| essv57321 | Remapped | Perfect | NC_000006.12:g.(?_ 26902195)_(2700258 6_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 26,902,195 | 27,002,586 |
| essv78672 | Remapped | Perfect | NC_000006.12:g.(?_ 26903832)_(2700252 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 26,903,832 | 27,002,521 |
| essv56398 | Remapped | Perfect | NC_000006.12:g.(?_ 26904001)_(2700256 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 26,904,001 | 27,002,561 |
| essv69651 | Remapped | Perfect | NC_000006.12:g.(?_ 26904138)_(2700309 0_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 26,904,138 | 27,003,090 |
| essv43300 | Remapped | Perfect | NC_000006.12:g.(?_ 26905049)_(2700252 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 26,905,049 | 27,002,521 |
| essv49896 | Remapped | Perfect | NC_000006.12:g.(?_ 26905049)_(2700256 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 26,905,049 | 27,002,561 |
| essv59642 | Remapped | Perfect | NC_000006.11:g.(?_ 26842216)_(2697034 0_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 26,842,216 | 26,970,340 |
| essv73511 | Remapped | Perfect | NC_000006.11:g.(?_ 26843813)_(2696964 0_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 26,843,813 | 26,969,640 |
| essv39621 | Remapped | Perfect | NC_000006.11:g.(?_ 26845388)_(2696210 7_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 26,845,388 | 26,962,107 |
| essv48816 | Remapped | Perfect | NC_000006.11:g.(?_ 26845489)_(2697118 4_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 26,845,489 | 26,971,184 |
| essv40351 | Remapped | Perfect | NC_000006.11:g.(?_ 26850914)_(2696957 0_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 26,850,914 | 26,969,570 |
| essv42205 | Remapped | Perfect | NC_000006.11:g.(?_ 26851104)_(2698939 7_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 26,851,104 | 26,989,397 |
| essv52103 | Remapped | Perfect | NC_000006.11:g.(?_ 26858918)_(2698345 6_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 26,858,918 | 26,983,456 |
| essv61484 | Remapped | Perfect | NC_000006.11:g.(?_ 26864741)_(2697021 4_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 26,864,741 | 26,970,214 |
| essv45825 | Remapped | Perfect | NC_000006.11:g.(?_ 26864816)_(2696819 6_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 26,864,816 | 26,968,196 |
| essv57321 | Remapped | Perfect | NC_000006.11:g.(?_ 26869974)_(2697036 5_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 26,869,974 | 26,970,365 |
| essv78672 | Remapped | Perfect | NC_000006.11:g.(?_ 26871611)_(2697030 0_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 26,871,611 | 26,970,300 |
| essv56398 | Remapped | Perfect | NC_000006.11:g.(?_ 26871780)_(2697034 0_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 26,871,780 | 26,970,340 |
| essv69651 | Remapped | Perfect | NC_000006.11:g.(?_ 26871917)_(2697086 9_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 26,871,917 | 26,970,869 |
| essv43300 | Remapped | Perfect | NC_000006.11:g.(?_ 26872828)_(2697030 0_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 26,872,828 | 26,970,300 |
| essv49896 | Remapped | Perfect | NC_000006.11:g.(?_ 26872828)_(2697034 0_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 26,872,828 | 26,970,340 |
| essv59642 | Submitted genomic | NC_000006.10:g.(?_ 26950195)_(2707831 9_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 26,950,195 | 27,078,319 | ||
| essv73511 | Submitted genomic | NC_000006.10:g.(?_ 26951792)_(2707761 9_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 26,951,792 | 27,077,619 | ||
| essv39621 | Submitted genomic | NC_000006.10:g.(?_ 26953367)_(2707008 6_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 26,953,367 | 27,070,086 | ||
| essv48816 | Submitted genomic | NC_000006.10:g.(?_ 26953468)_(2707916 3_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 26,953,468 | 27,079,163 | ||
| essv40351 | Submitted genomic | NC_000006.10:g.(?_ 26958893)_(2707754 9_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 26,958,893 | 27,077,549 | ||
| essv42205 | Submitted genomic | NC_000006.10:g.(?_ 26959083)_(2709737 6_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 26,959,083 | 27,097,376 | ||
| essv52103 | Submitted genomic | NC_000006.10:g.(?_ 26966897)_(2709143 5_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 26,966,897 | 27,091,435 | ||
| essv61484 | Submitted genomic | NC_000006.10:g.(?_ 26972720)_(2707819 3_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 26,972,720 | 27,078,193 | ||
| essv45825 | Submitted genomic | NC_000006.10:g.(?_ 26972795)_(2707617 5_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 26,972,795 | 27,076,175 | ||
| essv57321 | Submitted genomic | NC_000006.10:g.(?_ 26977953)_(2707834 4_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 26,977,953 | 27,078,344 | ||
| essv78672 | Submitted genomic | NC_000006.10:g.(?_ 26979590)_(2707827 9_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 26,979,590 | 27,078,279 | ||
| essv56398 | Submitted genomic | NC_000006.10:g.(?_ 26979759)_(2707831 9_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 26,979,759 | 27,078,319 | ||
| essv69651 | Submitted genomic | NC_000006.10:g.(?_ 26979896)_(2707884 8_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 26,979,896 | 27,078,848 | ||
| essv43300 | Submitted genomic | NC_000006.10:g.(?_ 26980807)_(2707827 9_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 26,980,807 | 27,078,279 | ||
| essv49896 | Submitted genomic | NC_000006.10:g.(?_ 26980807)_(2707831 9_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 26,980,807 | 27,078,319 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv48816 | 2 | NA07037 | Oligo aCGH | Probe signal intensity | Pass |
| essv57321 | 2 | NA11993 | Oligo aCGH | Probe signal intensity | Pass |
| essv52103 | 2 | NA12006 | Oligo aCGH | Probe signal intensity | Pass |
| essv69651 | 2 | NA12044 | Oligo aCGH | Probe signal intensity | Pass |
| essv73511 | 2 | NA12156 | Oligo aCGH | Probe signal intensity | Pass |
| essv61484 | 2 | NA12239 | Oligo aCGH | Probe signal intensity | Pass |
| essv39621 | 2 | NA12287 | Oligo aCGH | Probe signal intensity | Pass |
| essv78672 | 2 | NA12749 | Oligo aCGH | Probe signal intensity | Pass |
| essv56398 | 2 | NA12776 | Oligo aCGH | Probe signal intensity | Pass |
| essv40351 | 2 | NA12878 | Oligo aCGH | Probe signal intensity | Pass |
| essv42205 | 2 | NA18505 | Oligo aCGH | Probe signal intensity | Pass |
| essv49896 | 2 | NA18517 | Oligo aCGH | Probe signal intensity | Pass |
| essv59642 | 2 | NA18523 | Oligo aCGH | Probe signal intensity | Pass |
| essv43300 | 2 | NA18909 | Oligo aCGH | Probe signal intensity | Pass |
| essv45825 | 2 | NA19129 | Oligo aCGH | Probe signal intensity | Pass |