esv21265
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:16
- Validation:Yes
- Clinical Assertions: No
- Region Size:14,703
- 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: 545 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 545 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 368 SVs from 23 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 |
---|---|---|---|---|---|---|---|---|---|
esv21265 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 179,202,003 | 179,216,705 |
esv21265 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 180,066,730 | 180,081,432 |
esv21265 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 179,774,975 | 179,789,677 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv36263 | copy number loss | NA18907 | Oligo aCGH | Probe signal intensity | 1,412 |
essv38302 | copy number gain | NA19257 | Oligo aCGH | Probe signal intensity | 1,254 |
essv68096 | copy number gain | NA18858 | Oligo aCGH | Probe signal intensity | 1,507 |
essv71005 | copy number gain | NA18916 | Oligo aCGH | Probe signal intensity | 1,538 |
essv78954 | copy number gain | NA12749 | Oligo aCGH | Probe signal intensity | 1,232 |
essv50787 | copy number loss | NA11931 | Oligo aCGH | Probe signal intensity | 1,027 |
essv82481 | copy number loss | NA19114 | Oligo aCGH | Probe signal intensity | 1,473 |
essv50587 | copy number loss | NA18517 | Oligo aCGH | Probe signal intensity | 1,365 |
essv43782 | copy number gain | NA18909 | Oligo aCGH | Probe signal intensity | 1,535 |
essv44584 | copy number gain | NA12489 | Oligo aCGH | Probe signal intensity | 1,098 |
essv46428 | copy number loss | NA19129 | Oligo aCGH | Probe signal intensity | 1,564 |
essv69268 | copy number gain | NA12044 | Oligo aCGH | Probe signal intensity | 1,055 |
essv61954 | copy number gain | NA12239 | Oligo aCGH | Probe signal intensity | 1,252 |
essv52615 | copy number gain | NA12006 | Oligo aCGH | Probe signal intensity | 1,080 |
essv56059 | copy number gain | NA12776 | Oligo aCGH | Probe signal intensity | 1,114 |
essv48591 | copy number gain | NA07037 | Oligo aCGH | Probe signal intensity | 1,154 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv36263 | Remapped | Perfect | NC_000002.12:g.(?_ 179202003)_(179211 915_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 179,202,003 | 179,211,915 |
essv38302 | Remapped | Perfect | NC_000002.12:g.(?_ 179202003)_(179213 660_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 179,202,003 | 179,213,660 |
essv68096 | Remapped | Perfect | NC_000002.12:g.(?_ 179202003)_(179218 262_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 179,202,003 | 179,218,262 |
essv71005 | Remapped | Perfect | NC_000002.12:g.(?_ 179202035)_(179216 705_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 179,202,035 | 179,216,705 |
essv78954 | Remapped | Perfect | NC_000002.12:g.(?_ 179202035)_(179216 705_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 179,202,035 | 179,216,705 |
essv50787 | Remapped | Perfect | NC_000002.12:g.(?_ 179202102)_(179211 915_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 179,202,102 | 179,211,915 |
essv82481 | Remapped | Perfect | NC_000002.12:g.(?_ 179202102)_(179211 915_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 179,202,102 | 179,211,915 |
essv50587 | Remapped | Perfect | NC_000002.12:g.(?_ 179202102)_(179213 260_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 179,202,102 | 179,213,260 |
essv43782 | Remapped | Perfect | NC_000002.12:g.(?_ 179202102)_(179216 705_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 179,202,102 | 179,216,705 |
essv44584 | Remapped | Perfect | NC_000002.12:g.(?_ 179202102)_(179216 705_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 179,202,102 | 179,216,705 |
essv46428 | Remapped | Perfect | NC_000002.12:g.(?_ 179202102)_(179216 705_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 179,202,102 | 179,216,705 |
essv69268 | Remapped | Perfect | NC_000002.12:g.(?_ 179202169)_(179216 705_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 179,202,169 | 179,216,705 |
essv61954 | Remapped | Perfect | NC_000002.12:g.(?_ 179202248)_(179211 915_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 179,202,248 | 179,211,915 |
essv52615 | Remapped | Perfect | NC_000002.12:g.(?_ 179202248)_(179215 320_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 179,202,248 | 179,215,320 |
essv56059 | Remapped | Perfect | NC_000002.12:g.(?_ 179202248)_(179215 320_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 179,202,248 | 179,215,320 |
essv48591 | Remapped | Perfect | NC_000002.12:g.(?_ 179202248)_(179216 705_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 179,202,248 | 179,216,705 |
essv36263 | Remapped | Perfect | NC_000002.11:g.(?_ 180066730)_(180076 642_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 180,066,730 | 180,076,642 |
essv38302 | Remapped | Perfect | NC_000002.11:g.(?_ 180066730)_(180078 387_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 180,066,730 | 180,078,387 |
essv68096 | Remapped | Perfect | NC_000002.11:g.(?_ 180066730)_(180082 989_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 180,066,730 | 180,082,989 |
essv71005 | Remapped | Perfect | NC_000002.11:g.(?_ 180066762)_(180081 432_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 180,066,762 | 180,081,432 |
essv78954 | Remapped | Perfect | NC_000002.11:g.(?_ 180066762)_(180081 432_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 180,066,762 | 180,081,432 |
essv50787 | Remapped | Perfect | NC_000002.11:g.(?_ 180066829)_(180076 642_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 180,066,829 | 180,076,642 |
essv82481 | Remapped | Perfect | NC_000002.11:g.(?_ 180066829)_(180076 642_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 180,066,829 | 180,076,642 |
essv50587 | Remapped | Perfect | NC_000002.11:g.(?_ 180066829)_(180077 987_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 180,066,829 | 180,077,987 |
essv43782 | Remapped | Perfect | NC_000002.11:g.(?_ 180066829)_(180081 432_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 180,066,829 | 180,081,432 |
essv44584 | Remapped | Perfect | NC_000002.11:g.(?_ 180066829)_(180081 432_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 180,066,829 | 180,081,432 |
essv46428 | Remapped | Perfect | NC_000002.11:g.(?_ 180066829)_(180081 432_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 180,066,829 | 180,081,432 |
essv69268 | Remapped | Perfect | NC_000002.11:g.(?_ 180066896)_(180081 432_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 180,066,896 | 180,081,432 |
essv61954 | Remapped | Perfect | NC_000002.11:g.(?_ 180066975)_(180076 642_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 180,066,975 | 180,076,642 |
essv52615 | Remapped | Perfect | NC_000002.11:g.(?_ 180066975)_(180080 047_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 180,066,975 | 180,080,047 |
essv56059 | Remapped | Perfect | NC_000002.11:g.(?_ 180066975)_(180080 047_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 180,066,975 | 180,080,047 |
essv48591 | Remapped | Perfect | NC_000002.11:g.(?_ 180066975)_(180081 432_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 180,066,975 | 180,081,432 |
essv36263 | Submitted genomic | NC_000002.10:g.(?_ 179774975)_(179784 887_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 179,774,975 | 179,784,887 | ||
essv38302 | Submitted genomic | NC_000002.10:g.(?_ 179774975)_(179786 632_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 179,774,975 | 179,786,632 | ||
essv68096 | Submitted genomic | NC_000002.10:g.(?_ 179774975)_(179791 234_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 179,774,975 | 179,791,234 | ||
essv71005 | Submitted genomic | NC_000002.10:g.(?_ 179775007)_(179789 677_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 179,775,007 | 179,789,677 | ||
essv78954 | Submitted genomic | NC_000002.10:g.(?_ 179775007)_(179789 677_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 179,775,007 | 179,789,677 | ||
essv50787 | Submitted genomic | NC_000002.10:g.(?_ 179775074)_(179784 887_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 179,775,074 | 179,784,887 | ||
essv82481 | Submitted genomic | NC_000002.10:g.(?_ 179775074)_(179784 887_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 179,775,074 | 179,784,887 | ||
essv50587 | Submitted genomic | NC_000002.10:g.(?_ 179775074)_(179786 232_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 179,775,074 | 179,786,232 | ||
essv43782 | Submitted genomic | NC_000002.10:g.(?_ 179775074)_(179789 677_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 179,775,074 | 179,789,677 | ||
essv44584 | Submitted genomic | NC_000002.10:g.(?_ 179775074)_(179789 677_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 179,775,074 | 179,789,677 | ||
essv46428 | Submitted genomic | NC_000002.10:g.(?_ 179775074)_(179789 677_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 179,775,074 | 179,789,677 | ||
essv69268 | Submitted genomic | NC_000002.10:g.(?_ 179775141)_(179789 677_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 179,775,141 | 179,789,677 | ||
essv61954 | Submitted genomic | NC_000002.10:g.(?_ 179775220)_(179784 887_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 179,775,220 | 179,784,887 | ||
essv52615 | Submitted genomic | NC_000002.10:g.(?_ 179775220)_(179788 292_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 179,775,220 | 179,788,292 | ||
essv56059 | Submitted genomic | NC_000002.10:g.(?_ 179775220)_(179788 292_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 179,775,220 | 179,788,292 | ||
essv48591 | Submitted genomic | NC_000002.10:g.(?_ 179775220)_(179789 677_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 179,775,220 | 179,789,677 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv48591 | 2 | NA07037 | Oligo aCGH | Probe signal intensity | Pass |
essv50787 | 2 | NA11931 | Oligo aCGH | Probe signal intensity | Pass |
essv52615 | 2 | NA12006 | Oligo aCGH | Probe signal intensity | Pass |
essv69268 | 2 | NA12044 | Oligo aCGH | Probe signal intensity | Pass |
essv61954 | 2 | NA12239 | Oligo aCGH | Probe signal intensity | Pass |
essv44584 | 2 | NA12489 | Oligo aCGH | Probe signal intensity | Pass |
essv78954 | 2 | NA12749 | Oligo aCGH | Probe signal intensity | Pass |
essv56059 | 2 | NA12776 | Oligo aCGH | Probe signal intensity | Pass |
essv50587 | 2 | NA18517 | Oligo aCGH | Probe signal intensity | Pass |
essv68096 | 2 | NA18858 | Oligo aCGH | Probe signal intensity | Pass |
essv36263 | 2 | NA18907 | Oligo aCGH | Probe signal intensity | Pass |
essv43782 | 2 | NA18909 | Oligo aCGH | Probe signal intensity | Pass |
essv71005 | 2 | NA18916 | Oligo aCGH | Probe signal intensity | Pass |
essv82481 | 2 | NA19114 | Oligo aCGH | Probe signal intensity | Pass |
essv46428 | 2 | NA19129 | Oligo aCGH | Probe signal intensity | Pass |
essv38302 | 2 | NA19257 | Oligo aCGH | Probe signal intensity | Pass |