esv6518
- Organism: Homo sapiens
- Study:estd19 (Ahn et al. 2009)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:4,761
- Publication(s):Ahn 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: 407 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 408 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 120 SVs from 10 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv6518 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 11,325,851 | 11,326,143 | 11,330,378 | 11,330,611 |
| esv6518 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_015495300.1 | Chr4|NW_01 5495300.1 | 204,531 | 204,531 | 207,392 | - |
| esv6518 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000024.9 | ChrY | 13,481,527 | 13,481,819 | 13,486,054 | 13,486,287 |
| esv6518 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000024.8 | ChrY | 11,941,527 | 11,941,819 | 11,946,054 | 11,946,287 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv28959 | copy number loss | Sequencing | Read depth and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv28959 | Remapped | Pass | NW_015495300.1:g.( 204531_204531)_(20 7392_?)del | GRCh38.p12 | Second Pass | NW_015495300.1 | Chr4|NW_01 5495300.1 | 204,531 | 204,531 | 207,392 | - |
| essv28959 | Remapped | Perfect | NC_000024.10:g.(11 325851_11326143)_( 11330378_11330611) del | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 11,325,851 | 11,326,143 | 11,330,378 | 11,330,611 |
| essv28959 | Remapped | Perfect | NC_000024.9:g.(134 81527_13481819)_(1 3486054_13486287)d el | GRCh37.p13 | First Pass | NC_000024.9 | ChrY | 13,481,527 | 13,481,819 | 13,486,054 | 13,486,287 |
| essv28959 | Submitted genomic | NC_000024.8:g.(119 41527_11941819)_(1 1946054_11946287)d el | NCBI36 (hg18) | NC_000024.8 | ChrY | 11,941,527 | 11,941,819 | 11,946,054 | 11,946,287 |