esv3693074
- Organism: Homo sapiens
- Study:estd221 (Palta et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:178,833
- Publication(s):Palta et al. 2015
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: 776 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 230 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 776 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 114 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 249 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3693074 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 25,104,514 | 25,283,346 |
| esv3693074 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315936.1 | Chr11|NW_0 03315936.1 | 1 | 118,673 |
| esv3693074 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 25,126,060 | 25,304,892 |
| esv3693074 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_003315936.1 | Chr11|NW_0 03315936.1 | 1 | 118,673 |
| esv3693074 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 25,082,636 | 25,261,468 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| essv16508187 | copy number loss | NA19100 | SNP array | Probe signal intensity | Healthy individuals | 1 | 21 |
| essv16508770 | copy number loss | NA19099 | SNP array | Probe signal intensity | Healthy individuals | 1 | 17 |
| essv16509073 | copy number loss | NA19098 | SNP array | Probe signal intensity | Healthy individuals | 1 | 20 |
| essv16507875 | copy number gain | NA19102 | SNP array | Probe signal intensity | Healthy individuals | 3 | 26 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16508187 | Remapped | Pass | NW_003315936.1:g.( ?_1)_(116456_?)del | GRCh38.p12 | Second Pass | NW_003315936.1 | Chr11|NW_0 03315936.1 | 1 | 116,456 |
| essv16508770 | Remapped | Pass | NW_003315936.1:g.( ?_1)_(116456_?)del | GRCh38.p12 | Second Pass | NW_003315936.1 | Chr11|NW_0 03315936.1 | 1 | 116,456 |
| essv16509073 | Remapped | Pass | NW_003315936.1:g.( ?_1)_(118673_?)del | GRCh38.p12 | Second Pass | NW_003315936.1 | Chr11|NW_0 03315936.1 | 1 | 118,673 |
| essv16507875 | Remapped | Pass | NW_003315936.1:g.( ?_50399)_(89656_?) dup | GRCh38.p12 | Second Pass | NW_003315936.1 | Chr11|NW_0 03315936.1 | 50,399 | 89,656 |
| essv16508187 | Remapped | Perfect | NC_000011.10:g.(?_ 25104514)_(2528112 9_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 25,104,514 | 25,281,129 |
| essv16508770 | Remapped | Perfect | NC_000011.10:g.(?_ 25104514)_(2528112 9_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 25,104,514 | 25,281,129 |
| essv16509073 | Remapped | Perfect | NC_000011.10:g.(?_ 25104514)_(2528334 6_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 25,104,514 | 25,283,346 |
| essv16507875 | Remapped | Perfect | NC_000011.10:g.(?_ 25220804)_(2525432 9_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 25,220,804 | 25,254,329 |
| essv16508187 | Remapped | Pass | NW_003315936.1:g.( ?_1)_(116456_?)del | GRCh37.p13 | Second Pass | NW_003315936.1 | Chr11|NW_0 03315936.1 | 1 | 116,456 |
| essv16508770 | Remapped | Pass | NW_003315936.1:g.( ?_1)_(116456_?)del | GRCh37.p13 | Second Pass | NW_003315936.1 | Chr11|NW_0 03315936.1 | 1 | 116,456 |
| essv16509073 | Remapped | Pass | NW_003315936.1:g.( ?_1)_(118673_?)del | GRCh37.p13 | Second Pass | NW_003315936.1 | Chr11|NW_0 03315936.1 | 1 | 118,673 |
| essv16507875 | Remapped | Pass | NW_003315936.1:g.( ?_50399)_(89656_?) dup | GRCh37.p13 | Second Pass | NW_003315936.1 | Chr11|NW_0 03315936.1 | 50,399 | 89,656 |
| essv16508187 | Remapped | Perfect | NC_000011.9:g.(?_2 5126060)_(25302675 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 25,126,060 | 25,302,675 |
| essv16508770 | Remapped | Perfect | NC_000011.9:g.(?_2 5126060)_(25302675 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 25,126,060 | 25,302,675 |
| essv16509073 | Remapped | Perfect | NC_000011.9:g.(?_2 5126060)_(25304892 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 25,126,060 | 25,304,892 |
| essv16507875 | Remapped | Perfect | NC_000011.9:g.(?_2 5242350)_(25275875 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 25,242,350 | 25,275,875 |
| essv16508187 | Submitted genomic | NC_000011.8:g.(?_2 5082636)_(25259251 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 25,082,636 | 25,259,251 | ||
| essv16508770 | Submitted genomic | NC_000011.8:g.(?_2 5082636)_(25259251 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 25,082,636 | 25,259,251 | ||
| essv16509073 | Submitted genomic | NC_000011.8:g.(?_2 5082636)_(25261468 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 25,082,636 | 25,261,468 | ||
| essv16507875 | Submitted genomic | NC_000011.8:g.(?_2 5198926)_(25232451 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 25,198,926 | 25,232,451 |