esv6873
- 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:19,206
- 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: 244 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 242 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 63 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv6873 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 47,170,004 | 47,170,042 | 47,189,154 | 47,189,209 |
| esv6873 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 45,247,370 | 45,247,408 | 45,266,520 | 45,266,575 |
| esv6873 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 42,602,369 | 42,602,407 | 42,621,519 | 42,621,574 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv29314 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv29314 | Remapped | Perfect | NC_000017.11:g.(47 170004_47170042)_( 47189154_47189209) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 47,170,004 | 47,170,042 | 47,189,154 | 47,189,209 |
| essv29314 | Remapped | Perfect | NC_000017.10:g.(45 247370_45247408)_( 45266520_45266575) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 45,247,370 | 45,247,408 | 45,266,520 | 45,266,575 |
| essv29314 | Submitted genomic | NC_000017.9:g.(426 02369_42602407)_(4 2621519_42621574)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 42,602,369 | 42,602,407 | 42,621,519 | 42,621,574 |