esv2757649
- Organism: Homo sapiens
- Study:estd1 (Redon et al. 2006)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:15,508
- 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: 232 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 232 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 10 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2757649 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 86,487,919 | 86,503,426 |
| esv2757649 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 86,521,525 | 86,537,032 |
| esv2757649 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000016.8 | Chr16 | 85,079,026 | 85,094,533 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7962 | Remapped | Perfect | NC_000016.10:g.(86 487919_86487919)_( 86492149_86493263) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 86,487,919 | 86,487,919 | 86,492,149 | 86,493,263 |
| essv4511 | Remapped | Perfect | NC_000016.10:g.(86 489293_86489293)_( 86493263_86503426) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 86,489,293 | 86,489,293 | 86,493,263 | 86,503,426 |
| essv7962 | Remapped | Perfect | NC_000016.9:g.(865 21525_86521525)_(8 6525755_86526869)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 86,521,525 | 86,521,525 | 86,525,755 | 86,526,869 |
| essv4511 | Remapped | Perfect | NC_000016.9:g.(865 22899_86522899)_(8 6526869_86537032)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 86,522,899 | 86,522,899 | 86,526,869 | 86,537,032 |
| essv7962 | Submitted genomic | NC_000016.8:g.(850 79026_85079026)_(8 5083256_85084370)d up | NCBI35 (hg17) | NC_000016.8 | Chr16 | 85,079,026 | 85,079,026 | 85,083,256 | 85,084,370 | ||
| essv4511 | Submitted genomic | NC_000016.8:g.(850 80400_85080400)_(8 5084370_85094533)d el | NCBI35 (hg17) | NC_000016.8 | Chr16 | 85,080,400 | 85,080,400 | 85,084,370 | 85,094,533 |