esv2657875
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:20
- Validation:Yes
- Clinical Assertions: No
- Region Size:24,548
- Publication(s):1000 Genomes Project Consortium et al. 2012
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: 412 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 412 SVs from 64 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2657875 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 6,081,264 | 6,081,635 | 6,105,441 | 6,105,811 |
| esv2657875 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 6,120,895 | 6,121,266 | 6,145,072 | 6,145,442 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5493105 | deletion | SAMN00001587 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,494 |
| essv5512782 | deletion | SAMN00000566 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 947 |
| essv5594304 | deletion | SAMN00001697 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,511 |
| essv5702549 | deletion | SAMN00000571 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,271 |
| essv5770145 | deletion | SAMN00000549 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,136 |
| essv5814723 | deletion | SAMN00000484 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 848 |
| essv5845270 | deletion | SAMN00001590 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,510 |
| essv5859411 | deletion | SAMN00000574 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,208 |
| essv5869002 | deletion | SAMN00001624 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,608 |
| essv5928265 | deletion | SAMN00001632 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,311 |
| essv5936870 | deletion | SAMN00000474 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,357 |
| essv5952231 | deletion | SAMN00001623 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,585 |
| essv6039307 | deletion | SAMN00001579 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,501 |
| essv6067052 | deletion | SAMN00001685 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,589 |
| essv6098482 | deletion | SAMN00001582 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,248 |
| essv6240588 | deletion | SAMN00001667 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,455 |
| essv6257023 | deletion | SAMN00001585 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,431 |
| essv6378322 | deletion | SAMN00001688 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 843 |
| essv6560631 | deletion | SAMN00001576 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,882 |
| essv6596954 | deletion | SAMN00001671 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,447 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5493105 | Remapped | Perfect | NC_000007.14:g.(60 81264_6081635)_(61 05441_6105811)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,081,264 | 6,081,635 | 6,105,441 | 6,105,811 |
| essv5512782 | Remapped | Perfect | NC_000007.14:g.(60 81264_6081635)_(61 05441_6105811)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,081,264 | 6,081,635 | 6,105,441 | 6,105,811 |
| essv5594304 | Remapped | Perfect | NC_000007.14:g.(60 81264_6081635)_(61 05441_6105811)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,081,264 | 6,081,635 | 6,105,441 | 6,105,811 |
| essv5702549 | Remapped | Perfect | NC_000007.14:g.(60 81264_6081635)_(61 05441_6105811)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,081,264 | 6,081,635 | 6,105,441 | 6,105,811 |
| essv5770145 | Remapped | Perfect | NC_000007.14:g.(60 81264_6081635)_(61 05441_6105811)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,081,264 | 6,081,635 | 6,105,441 | 6,105,811 |
| essv5814723 | Remapped | Perfect | NC_000007.14:g.(60 81264_6081635)_(61 05441_6105811)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,081,264 | 6,081,635 | 6,105,441 | 6,105,811 |
| essv5845270 | Remapped | Perfect | NC_000007.14:g.(60 81264_6081635)_(61 05441_6105811)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,081,264 | 6,081,635 | 6,105,441 | 6,105,811 |
| essv5859411 | Remapped | Perfect | NC_000007.14:g.(60 81264_6081635)_(61 05441_6105811)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,081,264 | 6,081,635 | 6,105,441 | 6,105,811 |
| essv5869002 | Remapped | Perfect | NC_000007.14:g.(60 81264_6081635)_(61 05441_6105811)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,081,264 | 6,081,635 | 6,105,441 | 6,105,811 |
| essv5928265 | Remapped | Perfect | NC_000007.14:g.(60 81264_6081635)_(61 05441_6105811)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,081,264 | 6,081,635 | 6,105,441 | 6,105,811 |
| essv5936870 | Remapped | Perfect | NC_000007.14:g.(60 81264_6081635)_(61 05441_6105811)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,081,264 | 6,081,635 | 6,105,441 | 6,105,811 |
| essv5952231 | Remapped | Perfect | NC_000007.14:g.(60 81264_6081635)_(61 05441_6105811)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,081,264 | 6,081,635 | 6,105,441 | 6,105,811 |
| essv6039307 | Remapped | Perfect | NC_000007.14:g.(60 81264_6081635)_(61 05441_6105811)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,081,264 | 6,081,635 | 6,105,441 | 6,105,811 |
| essv6067052 | Remapped | Perfect | NC_000007.14:g.(60 81264_6081635)_(61 05441_6105811)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,081,264 | 6,081,635 | 6,105,441 | 6,105,811 |
| essv6098482 | Remapped | Perfect | NC_000007.14:g.(60 81264_6081635)_(61 05441_6105811)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,081,264 | 6,081,635 | 6,105,441 | 6,105,811 |
| essv6240588 | Remapped | Perfect | NC_000007.14:g.(60 81264_6081635)_(61 05441_6105811)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,081,264 | 6,081,635 | 6,105,441 | 6,105,811 |
| essv6257023 | Remapped | Perfect | NC_000007.14:g.(60 81264_6081635)_(61 05441_6105811)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,081,264 | 6,081,635 | 6,105,441 | 6,105,811 |
| essv6378322 | Remapped | Perfect | NC_000007.14:g.(60 81264_6081635)_(61 05441_6105811)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,081,264 | 6,081,635 | 6,105,441 | 6,105,811 |
| essv6560631 | Remapped | Perfect | NC_000007.14:g.(60 81264_6081635)_(61 05441_6105811)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,081,264 | 6,081,635 | 6,105,441 | 6,105,811 |
| essv6596954 | Remapped | Perfect | NC_000007.14:g.(60 81264_6081635)_(61 05441_6105811)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,081,264 | 6,081,635 | 6,105,441 | 6,105,811 |
| essv5493105 | Submitted genomic | NC_000007.13:g.(61 20895_6121266)_(61 45072_6145442)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,120,895 | 6,121,266 | 6,145,072 | 6,145,442 | ||
| essv5512782 | Submitted genomic | NC_000007.13:g.(61 20895_6121266)_(61 45072_6145442)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,120,895 | 6,121,266 | 6,145,072 | 6,145,442 | ||
| essv5594304 | Submitted genomic | NC_000007.13:g.(61 20895_6121266)_(61 45072_6145442)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,120,895 | 6,121,266 | 6,145,072 | 6,145,442 | ||
| essv5702549 | Submitted genomic | NC_000007.13:g.(61 20895_6121266)_(61 45072_6145442)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,120,895 | 6,121,266 | 6,145,072 | 6,145,442 | ||
| essv5770145 | Submitted genomic | NC_000007.13:g.(61 20895_6121266)_(61 45072_6145442)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,120,895 | 6,121,266 | 6,145,072 | 6,145,442 | ||
| essv5814723 | Submitted genomic | NC_000007.13:g.(61 20895_6121266)_(61 45072_6145442)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,120,895 | 6,121,266 | 6,145,072 | 6,145,442 | ||
| essv5845270 | Submitted genomic | NC_000007.13:g.(61 20895_6121266)_(61 45072_6145442)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,120,895 | 6,121,266 | 6,145,072 | 6,145,442 | ||
| essv5859411 | Submitted genomic | NC_000007.13:g.(61 20895_6121266)_(61 45072_6145442)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,120,895 | 6,121,266 | 6,145,072 | 6,145,442 | ||
| essv5869002 | Submitted genomic | NC_000007.13:g.(61 20895_6121266)_(61 45072_6145442)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,120,895 | 6,121,266 | 6,145,072 | 6,145,442 | ||
| essv5928265 | Submitted genomic | NC_000007.13:g.(61 20895_6121266)_(61 45072_6145442)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,120,895 | 6,121,266 | 6,145,072 | 6,145,442 | ||
| essv5936870 | Submitted genomic | NC_000007.13:g.(61 20895_6121266)_(61 45072_6145442)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,120,895 | 6,121,266 | 6,145,072 | 6,145,442 | ||
| essv5952231 | Submitted genomic | NC_000007.13:g.(61 20895_6121266)_(61 45072_6145442)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,120,895 | 6,121,266 | 6,145,072 | 6,145,442 | ||
| essv6039307 | Submitted genomic | NC_000007.13:g.(61 20895_6121266)_(61 45072_6145442)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,120,895 | 6,121,266 | 6,145,072 | 6,145,442 | ||
| essv6067052 | Submitted genomic | NC_000007.13:g.(61 20895_6121266)_(61 45072_6145442)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,120,895 | 6,121,266 | 6,145,072 | 6,145,442 | ||
| essv6098482 | Submitted genomic | NC_000007.13:g.(61 20895_6121266)_(61 45072_6145442)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,120,895 | 6,121,266 | 6,145,072 | 6,145,442 | ||
| essv6240588 | Submitted genomic | NC_000007.13:g.(61 20895_6121266)_(61 45072_6145442)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,120,895 | 6,121,266 | 6,145,072 | 6,145,442 | ||
| essv6257023 | Submitted genomic | NC_000007.13:g.(61 20895_6121266)_(61 45072_6145442)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,120,895 | 6,121,266 | 6,145,072 | 6,145,442 | ||
| essv6378322 | Submitted genomic | NC_000007.13:g.(61 20895_6121266)_(61 45072_6145442)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,120,895 | 6,121,266 | 6,145,072 | 6,145,442 | ||
| essv6560631 | Submitted genomic | NC_000007.13:g.(61 20895_6121266)_(61 45072_6145442)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,120,895 | 6,121,266 | 6,145,072 | 6,145,442 | ||
| essv6596954 | Submitted genomic | NC_000007.13:g.(61 20895_6121266)_(61 45072_6145442)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,120,895 | 6,121,266 | 6,145,072 | 6,145,442 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5936870 | 7 | SAMN00000474 | SNP array | Probe signal intensity | Pass |
| essv5814723 | 7 | SAMN00000484 | SNP array | Probe signal intensity | Pass |
| essv5770145 | 7 | SAMN00000549 | SNP array | Probe signal intensity | Pass |
| essv5512782 | 7 | SAMN00000566 | SNP array | Probe signal intensity | Pass |
| essv5702549 | 7 | SAMN00000571 | SNP array | Probe signal intensity | Pass |
| essv5859411 | 7 | SAMN00000574 | SNP array | Probe signal intensity | Pass |
| essv6560631 | 7 | SAMN00001576 | SNP array | Probe signal intensity | Pass |
| essv6039307 | 7 | SAMN00001579 | SNP array | Probe signal intensity | Pass |
| essv6098482 | 7 | SAMN00001582 | SNP array | Probe signal intensity | Pass |
| essv6257023 | 7 | SAMN00001585 | SNP array | Probe signal intensity | Pass |
| essv5493105 | 7 | SAMN00001587 | SNP array | Probe signal intensity | Pass |
| essv5845270 | 7 | SAMN00001590 | SNP array | Probe signal intensity | Pass |
| essv5952231 | 7 | SAMN00001623 | SNP array | Probe signal intensity | Pass |
| essv5869002 | 7 | SAMN00001624 | SNP array | Probe signal intensity | Pass |
| essv5928265 | 7 | SAMN00001632 | SNP array | Probe signal intensity | Pass |
| essv6240588 | 7 | SAMN00001667 | SNP array | Probe signal intensity | Pass |
| essv6596954 | 7 | SAMN00001671 | SNP array | Probe signal intensity | Pass |
| essv6067052 | 7 | SAMN00001685 | SNP array | Probe signal intensity | Pass |
| essv6378322 | 7 | SAMN00001688 | SNP array | Probe signal intensity | Pass |
| essv5594304 | 7 | SAMN00001697 | SNP array | Probe signal intensity | Pass |