esv2732330
- Organism: Homo sapiens
- Study:estd201 (Wong et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:69,414
- Publication(s):Wong et al. 2013
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: 2622 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 2622 SVs from 96 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2732330 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,257,451 | 78,326,864 |
| esv2732330 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 78,967,168 | 79,036,581 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6680448 | deletion | SSM033 | Sequencing | Paired-end mapping | 3,319 |
| essv6748791 | deletion | SSM056 | Sequencing | Paired-end mapping | 2,545 |
| essv6845010 | deletion | SSM085 | Sequencing | Paired-end mapping | 2,776 |
| essv6878666 | deletion | SSM093 | Sequencing | Paired-end mapping | 2,479 |
| essv6929129 | deletion | SSM003 | Sequencing | Paired-end mapping | 3,014 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6680448 | Remapped | Perfect | NC_000006.12:g.(78 257451_?)_(?_78326 864)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,257,451 | 78,326,864 |
| essv6748791 | Remapped | Perfect | NC_000006.12:g.(78 257457_?)_(?_78326 770)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,257,457 | 78,326,770 |
| essv6845010 | Remapped | Perfect | NC_000006.12:g.(78 257457_?)_(?_78326 831)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,257,457 | 78,326,831 |
| essv6878666 | Remapped | Perfect | NC_000006.12:g.(78 257463_?)_(?_78326 811)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,257,463 | 78,326,811 |
| essv6929129 | Remapped | Perfect | NC_000006.12:g.(78 257475_?)_(?_78326 823)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,257,475 | 78,326,823 |
| essv6680448 | Submitted genomic | NC_000006.11:g.(78 967168_?)_(?_79036 581)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,967,168 | 79,036,581 | ||
| essv6748791 | Submitted genomic | NC_000006.11:g.(78 967174_?)_(?_79036 487)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,967,174 | 79,036,487 | ||
| essv6845010 | Submitted genomic | NC_000006.11:g.(78 967174_?)_(?_79036 548)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,967,174 | 79,036,548 | ||
| essv6878666 | Submitted genomic | NC_000006.11:g.(78 967180_?)_(?_79036 528)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,967,180 | 79,036,528 | ||
| essv6929129 | Submitted genomic | NC_000006.11:g.(78 967192_?)_(?_79036 540)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,967,192 | 79,036,540 |