esv3980604
- Organism: Homo sapiens
- Study:estd229 (Fakhro et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array, Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:12,600
- Publication(s):Fakhro et al. 2015
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: 37 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 438 SVs from 61 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3980604 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187517.1 | Chr1|NT_18 7517.1 | 1,872 | 14,471 |
| esv3980604 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 13,123,801 | 13,136,400 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25932152 | deletion | DGMQ-32251 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,647 |
| essv25946476 | deletion | DGMQ-32309 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,760 |
| essv26027217 | deletion | DGMQ-31641 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,638 |
| essv26011793 | deletion | DGMQ-32285 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,598 |
| essv25926744 | deletion | DGMQ-32160 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,682 |
| essv25914472 | deletion | DGMQ-31643 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,512 |
| essv25921466 | deletion | DGMQ-31244 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,657 |
| essv25901094 | deletion | DGMQ-31425 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,581 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25932152 | Remapped | Perfect | NT_187517.1:g.(187 2_?)_(?_5471)del | GRCh38.p12 | First Pass | NT_187517.1 | Chr1|NT_18 7517.1 | 1,872 | 5,471 |
| essv25946476 | Remapped | Perfect | NT_187517.1:g.(187 2_?)_(?_9521)del | GRCh38.p12 | First Pass | NT_187517.1 | Chr1|NT_18 7517.1 | 1,872 | 9,521 |
| essv26027217 | Remapped | Perfect | NT_187517.1:g.(232 2_?)_(?_9521)del | GRCh38.p12 | First Pass | NT_187517.1 | Chr1|NT_18 7517.1 | 2,322 | 9,521 |
| essv26011793 | Remapped | Perfect | NT_187517.1:g.(232 2_?)_(?_10421)del | GRCh38.p12 | First Pass | NT_187517.1 | Chr1|NT_18 7517.1 | 2,322 | 10,421 |
| essv25926744 | Remapped | Perfect | NT_187517.1:g.(232 2_?)_(?_14471)del | GRCh38.p12 | First Pass | NT_187517.1 | Chr1|NT_18 7517.1 | 2,322 | 14,471 |
| essv25914472 | Remapped | Perfect | NT_187517.1:g.(277 2_?)_(?_9521)del | GRCh38.p12 | First Pass | NT_187517.1 | Chr1|NT_18 7517.1 | 2,772 | 9,521 |
| essv25921466 | Remapped | Perfect | NT_187517.1:g.(277 2_?)_(?_9521)del | GRCh38.p12 | First Pass | NT_187517.1 | Chr1|NT_18 7517.1 | 2,772 | 9,521 |
| essv25901094 | Remapped | Perfect | NT_187517.1:g.(277 2_?)_(?_14471)del | GRCh38.p12 | First Pass | NT_187517.1 | Chr1|NT_18 7517.1 | 2,772 | 14,471 |
| essv25932152 | Submitted genomic | NC_000001.10:g.(13 123801_?)_(?_13127 400)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 13,123,801 | 13,127,400 | ||
| essv25946476 | Submitted genomic | NC_000001.10:g.(13 123801_?)_(?_13131 450)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 13,123,801 | 13,131,450 | ||
| essv26027217 | Submitted genomic | NC_000001.10:g.(13 124251_?)_(?_13131 450)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 13,124,251 | 13,131,450 | ||
| essv26011793 | Submitted genomic | NC_000001.10:g.(13 124251_?)_(?_13132 350)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 13,124,251 | 13,132,350 | ||
| essv25926744 | Submitted genomic | NC_000001.10:g.(13 124251_?)_(?_13136 400)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 13,124,251 | 13,136,400 | ||
| essv25914472 | Submitted genomic | NC_000001.10:g.(13 124701_?)_(?_13131 450)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 13,124,701 | 13,131,450 | ||
| essv25921466 | Submitted genomic | NC_000001.10:g.(13 124701_?)_(?_13131 450)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 13,124,701 | 13,131,450 | ||
| essv25901094 | Submitted genomic | NC_000001.10:g.(13 124701_?)_(?_13136 400)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 13,124,701 | 13,136,400 |