esv2756785
- 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:120,865
- 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: 840 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 841 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 98 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 | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2756785 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 22,850,584 | 22,971,448 |
| esv2756785 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 22,868,701 | 22,989,565 |
| esv2756785 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000023.8 | ChrX | 22,628,358 | 22,749,222 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv1305 | Remapped | Perfect | NC_000023.11:g.(22 850584_22940379)_( 22968194_22971448) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 22,850,584 | 22,940,379 | 22,968,194 | 22,971,448 |
| essv1313 | Remapped | Perfect | NC_000023.11:g.(22 925164_22940379)_( 22968194_22971448) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 22,925,164 | 22,940,379 | 22,968,194 | 22,971,448 |
| essv1305 | Remapped | Perfect | NC_000023.10:g.(22 868701_22958496)_( 22986311_22989565) del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 22,868,701 | 22,958,496 | 22,986,311 | 22,989,565 |
| essv1313 | Remapped | Perfect | NC_000023.10:g.(22 943281_22958496)_( 22986311_22989565) del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 22,943,281 | 22,958,496 | 22,986,311 | 22,989,565 |
| essv1305 | Submitted genomic | NC_000023.8:g.(226 28358_22718153)_(2 2745968_22749222)d el | NCBI35 (hg17) | NC_000023.8 | ChrX | 22,628,358 | 22,718,153 | 22,745,968 | 22,749,222 | ||
| essv1313 | Submitted genomic | NC_000023.8:g.(227 02938_22718153)_(2 2745968_22749222)d el | NCBI35 (hg17) | NC_000023.8 | ChrX | 22,702,938 | 22,718,153 | 22,745,968 | 22,749,222 |