esv275200
- Organism: Homo sapiens
- Study:estd176 (Banerjee et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:14,340
- Publication(s):Banerjee et al. 2011
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: 155 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 155 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 37 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 | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
esv275200 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 135,014,279 | 135,021,104 | 135,028,432 | 135,028,618 |
esv275200 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 135,335,417 | 135,342,242 | 135,349,570 | 135,349,756 |
esv275200 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 135,377,110 | 135,383,935 | 135,391,263 | 135,391,449 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
essv2585221 | copy number loss | SNP array | Other |
essv2585589 | copy number gain | SNP array | Other |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv2585221 | Remapped | Perfect | NC_000006.12:g.(13 5014279_135021104) _(135028432_135028 618)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 135,014,279 | 135,021,104 | 135,028,432 | 135,028,618 |
essv2585589 | Remapped | Perfect | NC_000006.12:g.(13 5014279_135021104) _(135028432_135028 618)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 135,014,279 | 135,021,104 | 135,028,432 | 135,028,618 |
essv2585221 | Remapped | Perfect | NC_000006.11:g.(13 5335417_135342242) _(135349570_135349 756)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 135,335,417 | 135,342,242 | 135,349,570 | 135,349,756 |
essv2585589 | Remapped | Perfect | NC_000006.11:g.(13 5335417_135342242) _(135349570_135349 756)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 135,335,417 | 135,342,242 | 135,349,570 | 135,349,756 |
essv2585221 | Submitted genomic | NC_000006.10:g.(13 5377110_135383935) _(135391263_135391 449)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 135,377,110 | 135,383,935 | 135,391,263 | 135,391,449 | ||
essv2585589 | Submitted genomic | NC_000006.10:g.(13 5377110_135383935) _(135391263_135391 449)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 135,377,110 | 135,383,935 | 135,391,263 | 135,391,449 |