esv16721
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:6
- Validation:Yes
- Clinical Assertions: No
- Region Size:24,021
- 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: 708 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 708 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 333 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv16721 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 68,670,578 | 68,694,598 |
| esv16721 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 69,244,710 | 69,268,730 |
| esv16721 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 68,142,711 | 68,166,731 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv32992 | copy number loss | NA19147 | Oligo aCGH | Probe signal intensity | 1,541 |
| essv79656 | copy number loss | NA12749 | Oligo aCGH | Probe signal intensity | 1,232 |
| essv71931 | copy number loss | NA19225 | Oligo aCGH | Probe signal intensity | 1,558 |
| essv51281 | copy number loss | NA11931 | Oligo aCGH | Probe signal intensity | 1,027 |
| essv63276 | copy number loss | NA15510 | Oligo aCGH | Probe signal intensity | 1,307 |
| essv66502 | copy number loss | NA12828 | Oligo aCGH | Probe signal intensity | 1,072 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv32992 | Remapped | Perfect | NC_000013.11:g.(?_ 68670578)_(6869459 8_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,578 | 68,694,598 |
| essv79656 | Remapped | Perfect | NC_000013.11:g.(?_ 68670578)_(6869459 8_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,578 | 68,694,598 |
| essv71931 | Remapped | Perfect | NC_000013.11:g.(?_ 68670967)_(6869449 3_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,967 | 68,694,493 |
| essv51281 | Remapped | Perfect | NC_000013.11:g.(?_ 68670967)_(6869459 8_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,967 | 68,694,598 |
| essv63276 | Remapped | Perfect | NC_000013.11:g.(?_ 68670967)_(6869459 8_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,967 | 68,694,598 |
| essv66502 | Remapped | Perfect | NC_000013.11:g.(?_ 68670967)_(6869459 8_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,670,967 | 68,694,598 |
| essv32992 | Remapped | Perfect | NC_000013.10:g.(?_ 69244710)_(6926873 0_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 69,244,710 | 69,268,730 |
| essv79656 | Remapped | Perfect | NC_000013.10:g.(?_ 69244710)_(6926873 0_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 69,244,710 | 69,268,730 |
| essv71931 | Remapped | Perfect | NC_000013.10:g.(?_ 69245099)_(6926862 5_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 69,245,099 | 69,268,625 |
| essv51281 | Remapped | Perfect | NC_000013.10:g.(?_ 69245099)_(6926873 0_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 69,245,099 | 69,268,730 |
| essv63276 | Remapped | Perfect | NC_000013.10:g.(?_ 69245099)_(6926873 0_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 69,245,099 | 69,268,730 |
| essv66502 | Remapped | Perfect | NC_000013.10:g.(?_ 69245099)_(6926873 0_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 69,245,099 | 69,268,730 |
| essv32992 | Submitted genomic | NC_000013.9:g.(?_6 8142711)_(68166731 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 68,142,711 | 68,166,731 | ||
| essv79656 | Submitted genomic | NC_000013.9:g.(?_6 8142711)_(68166731 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 68,142,711 | 68,166,731 | ||
| essv71931 | Submitted genomic | NC_000013.9:g.(?_6 8143100)_(68166626 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 68,143,100 | 68,166,626 | ||
| essv51281 | Submitted genomic | NC_000013.9:g.(?_6 8143100)_(68166731 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 68,143,100 | 68,166,731 | ||
| essv63276 | Submitted genomic | NC_000013.9:g.(?_6 8143100)_(68166731 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 68,143,100 | 68,166,731 | ||
| essv66502 | Submitted genomic | NC_000013.9:g.(?_6 8143100)_(68166731 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 68,143,100 | 68,166,731 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv51281 | 2 | NA11931 | Oligo aCGH | Probe signal intensity | Pass |
| essv79656 | 2 | NA12749 | Oligo aCGH | Probe signal intensity | Pass |
| essv66502 | 2 | NA12828 | Oligo aCGH | Probe signal intensity | Pass |
| essv63276 | 2 | NA15510 | Oligo aCGH | Probe signal intensity | Pass |
| essv32992 | 2 | NA19147 | Oligo aCGH | Probe signal intensity | Pass |
| essv71931 | 2 | NA19225 | Oligo aCGH | Probe signal intensity | Pass |