esv2720097
- Organism: Homo sapiens
- Study:estd201 (Wong et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:20
- Validation:Not tested
- Clinical Assertions: No
- Region Size:79,436
- 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: 368 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 368 SVs from 68 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2720097 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 56,511,510 | 56,590,945 |
| esv2720097 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 56,738,645 | 56,818,080 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6942167 | deletion | SSM023 | Sequencing | Paired-end mapping | 4,243 |
| essv6764373 | deletion | SSM063 | Sequencing | Paired-end mapping | 2,124 |
| essv6972912 | deletion | SSM029 | Sequencing | Paired-end mapping | 6,569 |
| essv6750834 | deletion | SSM057 | Sequencing | Paired-end mapping | 2,605 |
| essv6667064 | deletion | SSM030 | Sequencing | Paired-end mapping | 1,792 |
| essv6748019 | deletion | SSM056 | Sequencing | Paired-end mapping | 2,545 |
| essv6955287 | deletion | SSM026 | Sequencing | Paired-end mapping | 6,124 |
| essv6879531 | deletion | SSM012 | Sequencing | Paired-end mapping | 3,093 |
| essv6736219 | deletion | SSM050 | Sequencing | Paired-end mapping | 2,538 |
| essv6910383 | deletion | SSM015 | Sequencing | Paired-end mapping | 3,555 |
| essv6756760 | deletion | SSM059 | Sequencing | Paired-end mapping | 2,245 |
| essv6742388 | deletion | SSM053 | Sequencing | Paired-end mapping | 2,524 |
| essv6751376 | deletion | SSM008 | Sequencing | Paired-end mapping | 3,261 |
| essv6773744 | deletion | SSM066 | Sequencing | Paired-end mapping | 3,133 |
| essv6919496 | deletion | SSM003 | Sequencing | Paired-end mapping | 3,014 |
| essv6962049 | deletion | SSM027 | Sequencing | Paired-end mapping | 5,772 |
| essv6859547 | deletion | SSM088 | Sequencing | Paired-end mapping | 4,275 |
| essv6853704 | deletion | SSM087 | Sequencing | Paired-end mapping | 5,379 |
| essv6816945 | deletion | SSM078 | Sequencing | Paired-end mapping | 4,128 |
| essv6889274 | deletion | SSM097 | Sequencing | Paired-end mapping | 2,968 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6942167 | Remapped | Perfect | NC_000002.12:g.(56 511510_?)_(?_56590 945)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 56,511,510 | 56,590,945 |
| essv6764373 | Remapped | Perfect | NC_000002.12:g.(56 519259_?)_(?_56519 882)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 56,519,259 | 56,519,882 |
| essv6972912 | Remapped | Perfect | NC_000002.12:g.(56 519271_?)_(?_56520 018)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 56,519,271 | 56,520,018 |
| essv6750834 | Remapped | Perfect | NC_000002.12:g.(56 519304_?)_(?_56519 871)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 56,519,304 | 56,519,871 |
| essv6667064 | Remapped | Perfect | NC_000002.12:g.(56 519310_?)_(?_56520 059)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 56,519,310 | 56,520,059 |
| essv6748019 | Remapped | Perfect | NC_000002.12:g.(56 519320_?)_(?_56519 922)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 56,519,320 | 56,519,922 |
| essv6955287 | Remapped | Perfect | NC_000002.12:g.(56 519324_?)_(?_56519 817)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 56,519,324 | 56,519,817 |
| essv6879531 | Remapped | Perfect | NC_000002.12:g.(56 519335_?)_(?_56519 836)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 56,519,335 | 56,519,836 |
| essv6736219 | Remapped | Perfect | NC_000002.12:g.(56 519352_?)_(?_56519 859)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 56,519,352 | 56,519,859 |
| essv6910383 | Remapped | Perfect | NC_000002.12:g.(56 519353_?)_(?_56519 812)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 56,519,353 | 56,519,812 |
| essv6756760 | Remapped | Perfect | NC_000002.12:g.(56 519361_?)_(?_56519 868)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 56,519,361 | 56,519,868 |
| essv6742388 | Remapped | Perfect | NC_000002.12:g.(56 519394_?)_(?_56519 923)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 56,519,394 | 56,519,923 |
| essv6751376 | Remapped | Perfect | NC_000002.12:g.(56 519395_?)_(?_56519 871)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 56,519,395 | 56,519,871 |
| essv6773744 | Remapped | Perfect | NC_000002.12:g.(56 519398_?)_(?_56519 823)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 56,519,398 | 56,519,823 |
| essv6919496 | Remapped | Perfect | NC_000002.12:g.(56 519398_?)_(?_56519 826)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 56,519,398 | 56,519,826 |
| essv6962049 | Remapped | Perfect | NC_000002.12:g.(56 519571_?)_(?_56519 658)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 56,519,571 | 56,519,658 |
| essv6859547 | Remapped | Perfect | NC_000002.12:g.(56 519573_?)_(?_56519 648)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 56,519,573 | 56,519,648 |
| essv6853704 | Remapped | Perfect | NC_000002.12:g.(56 519581_?)_(?_56519 649)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 56,519,581 | 56,519,649 |
| essv6816945 | Remapped | Perfect | NC_000002.12:g.(56 519582_?)_(?_56519 664)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 56,519,582 | 56,519,664 |
| essv6889274 | Remapped | Perfect | NC_000002.12:g.(56 519592_?)_(?_56519 712)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 56,519,592 | 56,519,712 |
| essv6942167 | Submitted genomic | NC_000002.11:g.(56 738645_?)_(?_56818 080)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 56,738,645 | 56,818,080 | ||
| essv6764373 | Submitted genomic | NC_000002.11:g.(56 746394_?)_(?_56747 017)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 56,746,394 | 56,747,017 | ||
| essv6972912 | Submitted genomic | NC_000002.11:g.(56 746406_?)_(?_56747 153)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 56,746,406 | 56,747,153 | ||
| essv6750834 | Submitted genomic | NC_000002.11:g.(56 746439_?)_(?_56747 006)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 56,746,439 | 56,747,006 | ||
| essv6667064 | Submitted genomic | NC_000002.11:g.(56 746445_?)_(?_56747 194)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 56,746,445 | 56,747,194 | ||
| essv6748019 | Submitted genomic | NC_000002.11:g.(56 746455_?)_(?_56747 057)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 56,746,455 | 56,747,057 | ||
| essv6955287 | Submitted genomic | NC_000002.11:g.(56 746459_?)_(?_56746 952)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 56,746,459 | 56,746,952 | ||
| essv6879531 | Submitted genomic | NC_000002.11:g.(56 746470_?)_(?_56746 971)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 56,746,470 | 56,746,971 | ||
| essv6736219 | Submitted genomic | NC_000002.11:g.(56 746487_?)_(?_56746 994)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 56,746,487 | 56,746,994 | ||
| essv6910383 | Submitted genomic | NC_000002.11:g.(56 746488_?)_(?_56746 947)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 56,746,488 | 56,746,947 | ||
| essv6756760 | Submitted genomic | NC_000002.11:g.(56 746496_?)_(?_56747 003)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 56,746,496 | 56,747,003 | ||
| essv6742388 | Submitted genomic | NC_000002.11:g.(56 746529_?)_(?_56747 058)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 56,746,529 | 56,747,058 | ||
| essv6751376 | Submitted genomic | NC_000002.11:g.(56 746530_?)_(?_56747 006)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 56,746,530 | 56,747,006 | ||
| essv6773744 | Submitted genomic | NC_000002.11:g.(56 746533_?)_(?_56746 958)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 56,746,533 | 56,746,958 | ||
| essv6919496 | Submitted genomic | NC_000002.11:g.(56 746533_?)_(?_56746 961)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 56,746,533 | 56,746,961 | ||
| essv6962049 | Submitted genomic | NC_000002.11:g.(56 746706_?)_(?_56746 793)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 56,746,706 | 56,746,793 | ||
| essv6859547 | Submitted genomic | NC_000002.11:g.(56 746708_?)_(?_56746 783)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 56,746,708 | 56,746,783 | ||
| essv6853704 | Submitted genomic | NC_000002.11:g.(56 746716_?)_(?_56746 784)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 56,746,716 | 56,746,784 | ||
| essv6816945 | Submitted genomic | NC_000002.11:g.(56 746717_?)_(?_56746 799)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 56,746,717 | 56,746,799 | ||
| essv6889274 | Submitted genomic | NC_000002.11:g.(56 746727_?)_(?_56746 847)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 56,746,727 | 56,746,847 |