esv994991
- 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:23,154
- 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: 588 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 69 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 316 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 19 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 |
---|---|---|---|---|---|---|---|---|---|
esv994991 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 253,618 | 259,746 |
esv994991 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 205,127 | 228,280 |
esv994991 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070872.2 | Chr17|NW_0 04070872.2 | 193,616 | 199,744 |
esv994991 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 103,409 | 109,537 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
essv3564768 | Remapped | Pass | NW_003315952.3:g.( 205127_?)_(?_22828 0)del | GRCh38.p12 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 205,127 | 228,280 |
essv3564768 | Remapped | Perfect | NC_000017.11:g.(25 3618_?)_(?_259746) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 253,618 | 259,746 |
essv3564768 | Remapped | Perfect | NW_004070872.2:g.( 193616_?)_(?_19974 4)del | GRCh37.p13 | First Pass | NW_004070872.2 | Chr17|NW_0 04070872.2 | 193,616 | 199,744 |
essv3564768 | Submitted genomic | NC_000017.9:g.(103 409_?)_(?_109537)d el2970 | NCBI36 (hg18) | NC_000017.9 | Chr17 | 103,409 | 109,537 |