esv8271
- 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:216
- 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: 94 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 94 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 25 SVs from 8 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv8271 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 33,095,437 | 33,095,502 | 33,095,587 | 33,095,652 |
esv8271 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 33,384,365 | 33,384,430 | 33,384,515 | 33,384,580 |
esv8271 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 33,424,371 | 33,424,436 | 33,424,521 | 33,424,586 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
essv30712 | copy number gain | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
essv30712 | Remapped | Perfect | NC_000010.11:g.(33 095437_33095502)_( 33095587_33095652) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 33,095,437 | 33,095,502 | 33,095,587 | 33,095,652 |
essv30712 | Remapped | Perfect | NC_000010.10:g.(33 384365_33384430)_( 33384515_33384580) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 33,384,365 | 33,384,430 | 33,384,515 | 33,384,580 |
essv30712 | Submitted genomic | NC_000010.9:g.(334 24371_33424436)_(3 3424521_33424586)d up | NCBI36 (hg18) | NC_000010.9 | Chr10 | 33,424,371 | 33,424,436 | 33,424,521 | 33,424,586 |