esv275511
- Organism: Homo sapiens
- Study:estd176 (Banerjee et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:20,857
- Publication(s):Banerjee et al. 2011
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: 218 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 64 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 220 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 107 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv275511 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 3,495,112 | 3,495,112 | 3,515,968 | 3,515,968 |
| esv275511 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187522.1 | Chr2|NT_18 7522.1 | 104,582 | 104,582 | 120,616 | - |
| esv275511 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 3,498,883 | 3,498,883 | 3,519,739 | 3,519,739 |
| esv275511 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 3,477,890 | 3,479,814 | 3,494,545 | 3,498,747 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv2585126 | copy number gain | SNP array | Other |
| essv2585309 | copy number loss | SNP array | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv2585126 | Remapped | Pass | NT_187522.1:g.(104 582_104582)_(12061 6_?)dup | GRCh38.p12 | Second Pass | NT_187522.1 | Chr2|NT_18 7522.1 | 104,582 | 104,582 | 120,616 | - |
| essv2585309 | Remapped | Pass | NT_187522.1:g.(104 582_104582)_(12061 6_?)del | GRCh38.p12 | Second Pass | NT_187522.1 | Chr2|NT_18 7522.1 | 104,582 | 104,582 | 120,616 | - |
| essv2585126 | Remapped | Good | NC_000002.12:g.(34 95112_3495112)_(35 15968_3515968)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 3,495,112 | 3,495,112 | 3,515,968 | 3,515,968 |
| essv2585309 | Remapped | Good | NC_000002.12:g.(34 95112_3495112)_(35 15968_3515968)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 3,495,112 | 3,495,112 | 3,515,968 | 3,515,968 |
| essv2585126 | Remapped | Good | NC_000002.11:g.(34 98883_3498883)_(35 19739_3519739)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 3,498,883 | 3,498,883 | 3,519,739 | 3,519,739 |
| essv2585309 | Remapped | Good | NC_000002.11:g.(34 98883_3498883)_(35 19739_3519739)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 3,498,883 | 3,498,883 | 3,519,739 | 3,519,739 |
| essv2585126 | Submitted genomic | NC_000002.10:g.(34 77890_3479814)_(34 94545_3498747)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 3,477,890 | 3,479,814 | 3,494,545 | 3,498,747 | ||
| essv2585309 | Submitted genomic | NC_000002.10:g.(34 77890_3479814)_(34 94545_3498747)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 3,477,890 | 3,479,814 | 3,494,545 | 3,498,747 |