esv2757271
- Organism: Homo sapiens
- Study:estd1 (Redon et al. 2006)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:177,471
- Publication(s):Redon et al. 2006
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: 664 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 664 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 44 SVs from 5 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
esv2757271 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 49,502,674 | 49,680,144 |
esv2757271 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 50,415,233 | 50,592,704 |
esv2757271 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000008.9 | Chr8 | 50,577,786 | 50,755,257 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv1067 | Remapped | Perfect | NC_000008.11:g.(49 502674_49522718)_( 49617594_49634948) dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 49,502,674 | 49,522,718 | 49,617,594 | 49,634,948 |
essv3935 | Remapped | Perfect | NC_000008.11:g.(49 519454_49522718)_( 49617594_49634948) dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 49,519,454 | 49,522,718 | 49,617,594 | 49,634,948 |
essv5070 | Remapped | Good | NC_000008.11:g.(49 519454_49519454)_( 49680144_49680144) dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 49,519,454 | 49,519,454 | 49,680,144 | 49,680,144 |
essv1067 | Remapped | Perfect | NC_000008.10:g.(50 415233_50435277)_( 50530153_50547507) dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 50,415,233 | 50,435,277 | 50,530,153 | 50,547,507 |
essv3935 | Remapped | Perfect | NC_000008.10:g.(50 432013_50435277)_( 50530153_50547507) dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 50,432,013 | 50,435,277 | 50,530,153 | 50,547,507 |
essv5070 | Remapped | Perfect | NC_000008.10:g.(50 432013_50432013)_( 50530153_50592704) dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 50,432,013 | 50,432,013 | 50,530,153 | 50,592,704 |
essv1067 | Submitted genomic | NC_000008.9:g.(505 77786_50597830)_(5 0692706_50710060)d up | NCBI35 (hg17) | NC_000008.9 | Chr8 | 50,577,786 | 50,597,830 | 50,692,706 | 50,710,060 | ||
essv3935 | Submitted genomic | NC_000008.9:g.(505 94566_50597830)_(5 0692706_50710060)d up | NCBI35 (hg17) | NC_000008.9 | Chr8 | 50,594,566 | 50,597,830 | 50,692,706 | 50,710,060 | ||
essv5070 | Submitted genomic | NC_000008.9:g.(505 94566_50594566)_(5 0692706_50755257)d up | NCBI35 (hg17) | NC_000008.9 | Chr8 | 50,594,566 | 50,594,566 | 50,692,706 | 50,755,257 |