esv20837
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:171,897
- Publication(s):Conrad 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: 759 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 216 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 759 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 104 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 244 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 | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
esv20837 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 25,102,393 | 25,274,289 |
esv20837 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315936.1 | Chr11|NW_0 03315936.1 | 1 | 109,616 |
esv20837 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 25,123,939 | 25,295,835 |
esv20837 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_003315936.1 | Chr11|NW_0 03315936.1 | 1 | 109,616 |
esv20837 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 25,080,515 | 25,252,411 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv54671 | Remapped | Pass | NW_003315936.1:g.( ?_1)_(109616_?)del | GRCh38.p12 | Second Pass | NW_003315936.1 | Chr11|NW_0 03315936.1 | 1 | 109,616 |
essv54671 | Remapped | Perfect | NC_000011.10:g.(?_ 25102393)_(2527428 9_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 25,102,393 | 25,274,289 |
essv54671 | Remapped | Pass | NW_003315936.1:g.( ?_1)_(109616_?)del | GRCh37.p13 | Second Pass | NW_003315936.1 | Chr11|NW_0 03315936.1 | 1 | 109,616 |
essv54671 | Remapped | Perfect | NC_000011.9:g.(?_2 5123939)_(25295835 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 25,123,939 | 25,295,835 |
essv54671 | Submitted genomic | NC_000011.8:g.(?_2 5080515)_(25252411 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 25,080,515 | 25,252,411 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv54671 | 2 | NA19099 | Oligo aCGH | Probe signal intensity | Pass |