esv1010993
- Organism: Homo sapiens
- Study:estd180 (Pang et al. 2010)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:38,286
- Publication(s):Pang et al. 2010
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: 592 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 591 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 61 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 146 SVs from 24 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
esv1010993 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 148,964,796 | 149,003,081 |
esv1010993 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 144,881,391 | 144,919,679 |
esv1010993 | Remapped | Good | GRCh37.p13 | PATCHES | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 5,780,209 | 5,818,494 |
esv1010993 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 143,592,748 | 143,631,036 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
essv3564189 | Remapped | Good | NC_000001.11:g.(14 8964796_?)_(?_1490 03081)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 148,964,796 | 149,003,081 |
essv3564189 | Remapped | Good | NW_003871055.3:g.( 5780209_?)_(?_5818 494)del | GRCh37.p13 | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 5,780,209 | 5,818,494 |
essv3564189 | Remapped | Perfect | NC_000001.10:g.(14 4881391_?)_(?_1449 19679)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 144,881,391 | 144,919,679 |
essv3564189 | Submitted genomic | NC_000001.9:g.(143 592748_?)_(?_14363 1036)del15382 | NCBI36 (hg18) | NC_000001.9 | Chr1 | 143,592,748 | 143,631,036 |