esv7291
- 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:35,783
- 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: 529 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 524 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 259 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 | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
esv7291 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 10,394,998 | 10,395,050 | 10,430,720 | 10,430,780 |
esv7291 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 11,081,677 | 11,081,737 | 11,117,407 | 11,117,459 |
esv7291 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 10,103,548 | 10,103,608 | 10,139,278 | 10,139,330 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
essv29732 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
essv29732 | Remapped | Perfect | NC_000021.9:g.(103 94998_10395050)_(1 0430720_10430780)d el | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,394,998 | 10,395,050 | 10,430,720 | 10,430,780 |
essv29732 | Remapped | Perfect | NC_000021.8:g.(110 81677_11081737)_(1 1117407_11117459)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 11,081,677 | 11,081,737 | 11,117,407 | 11,117,459 |
essv29732 | Submitted genomic | NC_000021.7:g.(101 03548_10103608)_(1 0139278_10139330)d el | NCBI36 (hg18) | NC_000021.7 | Chr21 | 10,103,548 | 10,103,608 | 10,139,278 | 10,139,330 |