esv3693218
- Organism: Homo sapiens
- Study:estd221 (Palta et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,512
- Publication(s):Palta et al. 2015
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: 979 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 602 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 979 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 442 SVs from 25 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3693218 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 15,977,992 | 15,983,503 |
| esv3693218 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 1,635,970 | 1,641,481 |
| esv3693218 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 16,071,849 | 16,077,360 |
| esv3693218 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 15,979,350 | 15,984,861 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| essv16507285 | copy number loss | NA19159 | SNP array | Probe signal intensity | Healthy individuals | 1 | 34 |
| essv16507629 | copy number loss | NA19161 | SNP array | Probe signal intensity | Healthy individuals | 1 | 26 |
| essv16508192 | copy number loss | NA19100 | SNP array | Probe signal intensity | Healthy individuals | 1 | 21 |
| essv16508774 | copy number loss | NA19099 | SNP array | Probe signal intensity | Healthy individuals | 1 | 17 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16507285 | Remapped | Perfect | NT_187607.1:g.(?_1 635970)_(1641481_? )del | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 1,635,970 | 1,641,481 |
| essv16507629 | Remapped | Perfect | NT_187607.1:g.(?_1 635970)_(1641481_? )del | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 1,635,970 | 1,641,481 |
| essv16508192 | Remapped | Perfect | NT_187607.1:g.(?_1 635970)_(1641481_? )del | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 1,635,970 | 1,641,481 |
| essv16508774 | Remapped | Perfect | NT_187607.1:g.(?_1 635970)_(1641481_? )del | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 1,635,970 | 1,641,481 |
| essv16507285 | Remapped | Perfect | NC_000016.10:g.(?_ 15977992)_(1598350 3_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,977,992 | 15,983,503 |
| essv16507629 | Remapped | Perfect | NC_000016.10:g.(?_ 15977992)_(1598350 3_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,977,992 | 15,983,503 |
| essv16508192 | Remapped | Perfect | NC_000016.10:g.(?_ 15977992)_(1598350 3_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,977,992 | 15,983,503 |
| essv16508774 | Remapped | Perfect | NC_000016.10:g.(?_ 15977992)_(1598350 3_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,977,992 | 15,983,503 |
| essv16507285 | Remapped | Perfect | NC_000016.9:g.(?_1 6071849)_(16077360 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 16,071,849 | 16,077,360 |
| essv16507629 | Remapped | Perfect | NC_000016.9:g.(?_1 6071849)_(16077360 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 16,071,849 | 16,077,360 |
| essv16508192 | Remapped | Perfect | NC_000016.9:g.(?_1 6071849)_(16077360 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 16,071,849 | 16,077,360 |
| essv16508774 | Remapped | Perfect | NC_000016.9:g.(?_1 6071849)_(16077360 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 16,071,849 | 16,077,360 |
| essv16507285 | Submitted genomic | NC_000016.8:g.(?_1 5979350)_(15984861 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 15,979,350 | 15,984,861 | ||
| essv16507629 | Submitted genomic | NC_000016.8:g.(?_1 5979350)_(15984861 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 15,979,350 | 15,984,861 | ||
| essv16508192 | Submitted genomic | NC_000016.8:g.(?_1 5979350)_(15984861 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 15,979,350 | 15,984,861 | ||
| essv16508774 | Submitted genomic | NC_000016.8:g.(?_1 5979350)_(15984861 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 15,979,350 | 15,984,861 |