esv4002935
- Organism: Homo sapiens
- Study:estd210 (Blake et al. 2014)
- Variant Type:translocation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:1
- Publication(s):Blake 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: 85 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 131 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 131 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 | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|---|
esv4002935 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 8,041,660 | 8,041,660 | + |
esv4002935 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 135,561,236 | 135,561,236 | + |
esv4002935 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 8,181,790 | 8,181,790 | + | ||
esv4002935 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 135,245,984 | 135,245,984 | + |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv26058942 | interchromosomal translocation | 10001047_1_1 | Sequencing | Split read and paired-end mapping | essv26058945, essv26058944, essv26058943 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
essv26058942 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 8,041,660 | 8,041,660 | + |
essv26058942 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 135,561,236 | 135,561,236 | + |
essv26058942 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 8,181,790 | 8,181,790 | + | ||
essv26058942 | Submitted genomic | GRCh37 (hg19) | NC_000007.13 | Chr7 | 135,245,984 | 135,245,984 | + |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv26058942 | 2 | 10001047_1_1 | Sequencing | Sequence alignment | Pass |