esv3893203
- Organism: Homo sapiens
- Study:estd224 (Suktitipat et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:17
- Validation:Not tested
- Clinical Assertions: No
- Region Size:22,744
- Publication(s):Suktitipat et al. 2014
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: 1067 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1067 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 340 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3893203 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 40,843,827 | 40,850,846 | 40,866,570 | 40,866,570 |
| esv3893203 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 41,349,732 | 41,356,751 | 41,372,475 | 41,372,475 |
| esv3893203 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 46,041,572 | 46,048,591 | 46,064,315 | 46,064,315 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25792995 | copy number gain | SNP array | Probe signal intensity | 3 |
| essv25786472 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25801005 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25787278 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25778893 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25779205 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25786372 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25786766 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25787310 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25788580 | copy number loss | SNP array | Probe signal intensity | 0 |
| essv25788891 | copy number loss | SNP array | Probe signal intensity | 0 |
| essv25792236 | copy number loss | SNP array | Probe signal intensity | 0 |
| essv25793820 | copy number loss | SNP array | Probe signal intensity | 0 |
| essv25795296 | copy number loss | SNP array | Probe signal intensity | 0 |
| essv25795766 | copy number loss | SNP array | Probe signal intensity | 0 |
| essv25795927 | copy number loss | SNP array | Probe signal intensity | 0 |
| essv25801354 | copy number loss | SNP array | Probe signal intensity | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25792995 | Remapped | Perfect | NC_000019.10:g.(?_ 40843827)_(4086657 0_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 40,843,827 | 40,866,570 |
| essv25786472 | Remapped | Perfect | NC_000019.10:g.(?_ 40846358)_(4086657 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 40,846,358 | 40,866,570 |
| essv25801005 | Remapped | Perfect | NC_000019.10:g.(?_ 40848628)_(4086657 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 40,848,628 | 40,866,570 |
| essv25787278 | Remapped | Perfect | NC_000019.10:g.(?_ 40850149)_(4086657 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 40,850,149 | 40,866,570 |
| essv25778893 | Remapped | Perfect | NC_000019.10:g.(?_ 40850594)_(4086657 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 40,850,594 | 40,866,570 |
| essv25779205 | Remapped | Perfect | NC_000019.10:g.(?_ 40850846)_(4086657 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 40,850,846 | 40,866,570 |
| essv25786372 | Remapped | Perfect | NC_000019.10:g.(?_ 40850846)_(4086657 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 40,850,846 | 40,866,570 |
| essv25786766 | Remapped | Perfect | NC_000019.10:g.(?_ 40850846)_(4086657 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 40,850,846 | 40,866,570 |
| essv25787310 | Remapped | Perfect | NC_000019.10:g.(?_ 40850846)_(4086657 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 40,850,846 | 40,866,570 |
| essv25788580 | Remapped | Perfect | NC_000019.10:g.(?_ 40850846)_(4086657 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 40,850,846 | 40,866,570 |
| essv25788891 | Remapped | Perfect | NC_000019.10:g.(?_ 40850846)_(4086657 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 40,850,846 | 40,866,570 |
| essv25792236 | Remapped | Perfect | NC_000019.10:g.(?_ 40850846)_(4086657 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 40,850,846 | 40,866,570 |
| essv25793820 | Remapped | Perfect | NC_000019.10:g.(?_ 40850846)_(4086657 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 40,850,846 | 40,866,570 |
| essv25795296 | Remapped | Perfect | NC_000019.10:g.(?_ 40850846)_(4086657 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 40,850,846 | 40,866,570 |
| essv25795766 | Remapped | Perfect | NC_000019.10:g.(?_ 40850846)_(4086657 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 40,850,846 | 40,866,570 |
| essv25795927 | Remapped | Perfect | NC_000019.10:g.(?_ 40850846)_(4086657 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 40,850,846 | 40,866,570 |
| essv25801354 | Remapped | Perfect | NC_000019.10:g.(?_ 40850846)_(4086657 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 40,850,846 | 40,866,570 |
| essv25792995 | Remapped | Perfect | NC_000019.9:g.(?_4 1349732)_(41372475 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 41,349,732 | 41,372,475 |
| essv25786472 | Remapped | Perfect | NC_000019.9:g.(?_4 1352263)_(41372475 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 41,352,263 | 41,372,475 |
| essv25801005 | Remapped | Perfect | NC_000019.9:g.(?_4 1354533)_(41372475 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 41,354,533 | 41,372,475 |
| essv25787278 | Remapped | Perfect | NC_000019.9:g.(?_4 1356054)_(41372475 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 41,356,054 | 41,372,475 |
| essv25778893 | Remapped | Perfect | NC_000019.9:g.(?_4 1356499)_(41372475 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 41,356,499 | 41,372,475 |
| essv25779205 | Remapped | Perfect | NC_000019.9:g.(?_4 1356751)_(41372475 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 41,356,751 | 41,372,475 |
| essv25786372 | Remapped | Perfect | NC_000019.9:g.(?_4 1356751)_(41372475 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 41,356,751 | 41,372,475 |
| essv25786766 | Remapped | Perfect | NC_000019.9:g.(?_4 1356751)_(41372475 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 41,356,751 | 41,372,475 |
| essv25787310 | Remapped | Perfect | NC_000019.9:g.(?_4 1356751)_(41372475 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 41,356,751 | 41,372,475 |
| essv25788580 | Remapped | Perfect | NC_000019.9:g.(?_4 1356751)_(41372475 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 41,356,751 | 41,372,475 |
| essv25788891 | Remapped | Perfect | NC_000019.9:g.(?_4 1356751)_(41372475 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 41,356,751 | 41,372,475 |
| essv25792236 | Remapped | Perfect | NC_000019.9:g.(?_4 1356751)_(41372475 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 41,356,751 | 41,372,475 |
| essv25793820 | Remapped | Perfect | NC_000019.9:g.(?_4 1356751)_(41372475 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 41,356,751 | 41,372,475 |
| essv25795296 | Remapped | Perfect | NC_000019.9:g.(?_4 1356751)_(41372475 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 41,356,751 | 41,372,475 |
| essv25795766 | Remapped | Perfect | NC_000019.9:g.(?_4 1356751)_(41372475 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 41,356,751 | 41,372,475 |
| essv25795927 | Remapped | Perfect | NC_000019.9:g.(?_4 1356751)_(41372475 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 41,356,751 | 41,372,475 |
| essv25801354 | Remapped | Perfect | NC_000019.9:g.(?_4 1356751)_(41372475 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 41,356,751 | 41,372,475 |
| essv25792995 | Submitted genomic | NC_000019.8:g.(?_4 6041572)_(46064315 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 46,041,572 | 46,064,315 | ||
| essv25786472 | Submitted genomic | NC_000019.8:g.(?_4 6044103)_(46064315 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 46,044,103 | 46,064,315 | ||
| essv25801005 | Submitted genomic | NC_000019.8:g.(?_4 6046373)_(46064315 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 46,046,373 | 46,064,315 | ||
| essv25787278 | Submitted genomic | NC_000019.8:g.(?_4 6047894)_(46064315 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 46,047,894 | 46,064,315 | ||
| essv25778893 | Submitted genomic | NC_000019.8:g.(?_4 6048339)_(46064315 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 46,048,339 | 46,064,315 | ||
| essv25779205 | Submitted genomic | NC_000019.8:g.(?_4 6048591)_(46064315 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 46,048,591 | 46,064,315 | ||
| essv25786372 | Submitted genomic | NC_000019.8:g.(?_4 6048591)_(46064315 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 46,048,591 | 46,064,315 | ||
| essv25786766 | Submitted genomic | NC_000019.8:g.(?_4 6048591)_(46064315 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 46,048,591 | 46,064,315 | ||
| essv25787310 | Submitted genomic | NC_000019.8:g.(?_4 6048591)_(46064315 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 46,048,591 | 46,064,315 | ||
| essv25788580 | Submitted genomic | NC_000019.8:g.(?_4 6048591)_(46064315 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 46,048,591 | 46,064,315 | ||
| essv25788891 | Submitted genomic | NC_000019.8:g.(?_4 6048591)_(46064315 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 46,048,591 | 46,064,315 | ||
| essv25792236 | Submitted genomic | NC_000019.8:g.(?_4 6048591)_(46064315 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 46,048,591 | 46,064,315 | ||
| essv25793820 | Submitted genomic | NC_000019.8:g.(?_4 6048591)_(46064315 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 46,048,591 | 46,064,315 | ||
| essv25795296 | Submitted genomic | NC_000019.8:g.(?_4 6048591)_(46064315 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 46,048,591 | 46,064,315 | ||
| essv25795766 | Submitted genomic | NC_000019.8:g.(?_4 6048591)_(46064315 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 46,048,591 | 46,064,315 | ||
| essv25795927 | Submitted genomic | NC_000019.8:g.(?_4 6048591)_(46064315 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 46,048,591 | 46,064,315 | ||
| essv25801354 | Submitted genomic | NC_000019.8:g.(?_4 6048591)_(46064315 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 46,048,591 | 46,064,315 |