esv3336988
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:19,416
- Publication(s):1000 Genomes Project Consortium 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: 282 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 286 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 14 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 121 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3336988 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 46,951,697 (-110, +1990) | 46,971,112 (-1580, +120) |
| esv3336988 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 46,810,487 (-110, +1990) | 46,830,412 (-1580, +120) |
| esv3336988 | Remapped | Good | GRCh37.p13 | PATCHES | Second Pass | NW_004166866.1 | ChrX|NW_00 4166866.1 | 201,258 (-110, +1990) | 220,673 (-1580, +120) |
| esv3336988 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 46,695,431 (-110, +1990) | 46,715,356 (-1580, +120) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8809618 | inversion | SAMN00801888 | Sequencing | Paired-end mapping | 69,298 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8809618 | Remapped | Good | NC_000023.11:g.(46 951587_46953687)_( 46969532_46971232) inv19079 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 46,951,697 (-110, +1990) | 46,971,112 (-1580, +120) |
| essv8809618 | Remapped | Good | NW_004166866.1:g.( 201148_203248)_(21 9093_220793)inv190 79 | GRCh37.p13 | Second Pass | NW_004166866.1 | ChrX|NW_00 4166866.1 | 201,258 (-110, +1990) | 220,673 (-1580, +120) |
| essv8809618 | Remapped | Perfect | NC_000023.10:g.(46 810377_46812477)_( 46828832_46830532) inv19079 | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 46,810,487 (-110, +1990) | 46,830,412 (-1580, +120) |
| essv8809618 | Submitted genomic | NC_000023.9:g.(466 95321_46697421)_(4 6713776_46715476)i nv19079 | NCBI36 (hg18) | NC_000023.9 | ChrX | 46,695,431 (-110, +1990) | 46,715,356 (-1580, +120) |