esv7612
- Organism: Homo sapiens
- Study:estd19 (Ahn et al. 2009)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,403
- Publication(s):Ahn et al. 2009
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: 522 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 266 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 270 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 522 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 267 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv7612 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 150,889 | 151,121 | 160,565 | 160,749 |
| esv7612 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 106,694 | 106,694 | 120,096 | 120,096 |
| esv7612 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 143,210 | 143,442 | 152,886 | 153,070 |
| esv7612 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 150,889 | 151,121 | 160,565 | 160,749 |
| esv7612 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 245,972 | 246,204 | 255,648 | 255,832 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv30053 | copy number loss | Sequencing | Read depth and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv30053 | Remapped | Pass | NT_187558.1:g.(106 694_106694)_(12009 6_120096)del | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 106,694 | 106,694 | 120,096 | 120,096 |
| essv30053 | Remapped | Perfect | NT_187653.1:g.(143 210_143442)_(15288 6_153070)del | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 143,210 | 143,442 | 152,886 | 153,070 |
| essv30053 | Remapped | Perfect | NC_000007.14:g.(15 0889_151121)_(1605 65_160749)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 150,889 | 151,121 | 160,565 | 160,749 |
| essv30053 | Remapped | Perfect | NC_000007.13:g.(15 0889_151121)_(1605 65_160749)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 150,889 | 151,121 | 160,565 | 160,749 |
| essv30053 | Submitted genomic | NC_000007.12:g.(24 5972_246204)_(2556 48_255832)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 245,972 | 246,204 | 255,648 | 255,832 |