esv3892800
- Organism: Homo sapiens
- Study:estd224 (Suktitipat et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:217,564
- Publication(s):Suktitipat et al. 2014
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: 1297 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 720 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1297 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 497 SVs from 29 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
esv3892800 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 16,518,116 | 16,568,619 | 16,735,679 | 16,735,679 |
esv3892800 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 2,179,176 | 2,179,176 | 2,396,615 | 2,396,615 |
esv3892800 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 16,611,973 | 16,662,476 | 16,829,536 | 16,829,536 |
esv3892800 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 16,519,474 | 16,569,977 | 16,737,037 | 16,737,037 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Copy number |
---|---|---|---|---|
essv25792690 | copy number gain | SNP array | Probe signal intensity | 3 |
essv25783017 | copy number loss | SNP array | Probe signal intensity | 1 |
essv25785217 | copy number loss | SNP array | Probe signal intensity | 1 |
essv25798872 | copy number loss | SNP array | Probe signal intensity | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv25792690 | Remapped | Good | NT_187607.1:g.(?_2 179176)_(2396615_? )dup | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 2,179,176 | 2,396,615 |
essv25783017 | Remapped | Good | NT_187607.1:g.(?_2 229677)_(2396615_? )del | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 2,229,677 | 2,396,615 |
essv25785217 | Remapped | Good | NT_187607.1:g.(?_2 229677)_(2396615_? )del | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 2,229,677 | 2,396,615 |
essv25798872 | Remapped | Good | NT_187607.1:g.(?_2 229677)_(2396615_? )del | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 2,229,677 | 2,396,615 |
essv25792690 | Remapped | Perfect | NC_000016.10:g.(?_ 16518116)_(1673567 9_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 16,518,116 | 16,735,679 |
essv25783017 | Remapped | Perfect | NC_000016.10:g.(?_ 16568619)_(1673567 9_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 16,568,619 | 16,735,679 |
essv25785217 | Remapped | Perfect | NC_000016.10:g.(?_ 16568619)_(1673567 9_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 16,568,619 | 16,735,679 |
essv25798872 | Remapped | Perfect | NC_000016.10:g.(?_ 16568619)_(1673567 9_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 16,568,619 | 16,735,679 |
essv25792690 | Remapped | Perfect | NC_000016.9:g.(?_1 6611973)_(16829536 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 16,611,973 | 16,829,536 |
essv25783017 | Remapped | Perfect | NC_000016.9:g.(?_1 6662476)_(16829536 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 16,662,476 | 16,829,536 |
essv25785217 | Remapped | Perfect | NC_000016.9:g.(?_1 6662476)_(16829536 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 16,662,476 | 16,829,536 |
essv25798872 | Remapped | Perfect | NC_000016.9:g.(?_1 6662476)_(16829536 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 16,662,476 | 16,829,536 |
essv25792690 | Submitted genomic | NC_000016.8:g.(?_1 6519474)_(16737037 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 16,519,474 | 16,737,037 | ||
essv25783017 | Submitted genomic | NC_000016.8:g.(?_1 6569977)_(16737037 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 16,569,977 | 16,737,037 | ||
essv25785217 | Submitted genomic | NC_000016.8:g.(?_1 6569977)_(16737037 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 16,569,977 | 16,737,037 | ||
essv25798872 | Submitted genomic | NC_000016.8:g.(?_1 6569977)_(16737037 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 16,569,977 | 16,737,037 |