esv2714071
- Organism: Homo sapiens
- Study:estd201 (Wong et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:19
- Validation:Not tested
- Clinical Assertions: No
- Region Size:67,086
- 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: 482 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 241 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 482 SVs from 75 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2714071 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 22,008,397 | 22,075,482 |
| esv2714071 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 1,029,556 | 1,096,641 |
| esv2714071 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 22,019,718 | 22,086,803 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6735498 | deletion | SSM049 | Sequencing | Paired-end mapping | 2,250 |
| essv6870087 | deletion | SSM011 | Sequencing | Paired-end mapping | 2,960 |
| essv6839110 | deletion | SSM083 | Sequencing | Paired-end mapping | 3,414 |
| essv6803845 | deletion | SSM073 | Sequencing | Paired-end mapping | 2,506 |
| essv6806748 | deletion | SSM074 | Sequencing | Paired-end mapping | 2,676 |
| essv6688671 | deletion | SSM035 | Sequencing | Paired-end mapping | 2,787 |
| essv6721157 | deletion | SSM044 | Sequencing | Paired-end mapping | 3,453 |
| essv6828196 | deletion | SSM080 | Sequencing | Paired-end mapping | 3,623 |
| essv6768874 | deletion | SSM064 | Sequencing | Paired-end mapping | 2,654 |
| essv6857983 | deletion | SSM087 | Sequencing | Paired-end mapping | 5,379 |
| essv6940843 | deletion | SSM022 | Sequencing | Paired-end mapping | 3,696 |
| essv6898000 | deletion | SSM099 | Sequencing | Paired-end mapping | 2,492 |
| essv6879828 | deletion | SSM093 | Sequencing | Paired-end mapping | 2,479 |
| essv6835331 | deletion | SSM082 | Sequencing | Paired-end mapping | 3,227 |
| essv6779939 | deletion | SSM067 | Sequencing | Paired-end mapping | 3,533 |
| essv6696080 | deletion | SSM037 | Sequencing | Paired-end mapping | 3,839 |
| essv6862991 | deletion | SSM088 | Sequencing | Paired-end mapping | 4,275 |
| essv6924844 | deletion | SSM018 | Sequencing | Paired-end mapping | 3,574 |
| essv6846336 | deletion | SSM085 | Sequencing | Paired-end mapping | 2,776 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6735498 | Remapped | Perfect | NW_017852933.1:g.( 1024341_?)_(?_1096 553)del | GRCh38.p12 | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 1,024,341 | 1,096,553 |
| essv6870087 | Remapped | Perfect | NW_017852933.1:g.( 1029526_?)_(?_1096 637)del | GRCh38.p12 | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 1,029,526 | 1,096,637 |
| essv6839110 | Remapped | Perfect | NW_017852933.1:g.( 1029530_?)_(?_1096 634)del | GRCh38.p12 | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 1,029,530 | 1,096,634 |
| essv6803845 | Remapped | Perfect | NW_017852933.1:g.( 1029531_?)_(?_1096 541)del | GRCh38.p12 | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 1,029,531 | 1,096,541 |
| essv6806748 | Remapped | Perfect | NW_017852933.1:g.( 1029542_?)_(?_1096 567)del | GRCh38.p12 | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 1,029,542 | 1,096,567 |
| essv6688671 | Remapped | Perfect | NW_017852933.1:g.( 1029547_?)_(?_1096 570)del | GRCh38.p12 | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 1,029,547 | 1,096,570 |
| essv6721157 | Remapped | Perfect | NW_017852933.1:g.( 1029547_?)_(?_1096 636)del | GRCh38.p12 | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 1,029,547 | 1,096,636 |
| essv6828196 | Remapped | Perfect | NW_017852933.1:g.( 1029548_?)_(?_1096 635)del | GRCh38.p12 | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 1,029,548 | 1,096,635 |
| essv6768874 | Remapped | Perfect | NW_017852933.1:g.( 1029554_?)_(?_1096 613)del | GRCh38.p12 | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 1,029,554 | 1,096,613 |
| essv6857983 | Remapped | Perfect | NW_017852933.1:g.( 1029555_?)_(?_1096 635)del | GRCh38.p12 | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 1,029,555 | 1,096,635 |
| essv6940843 | Remapped | Perfect | NW_017852933.1:g.( 1029555_?)_(?_1096 635)del | GRCh38.p12 | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 1,029,555 | 1,096,635 |
| essv6898000 | Remapped | Perfect | NW_017852933.1:g.( 1029556_?)_(?_1096 617)del | GRCh38.p12 | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 1,029,556 | 1,096,617 |
| essv6879828 | Remapped | Perfect | NW_017852933.1:g.( 1029556_?)_(?_1096 632)del | GRCh38.p12 | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 1,029,556 | 1,096,632 |
| essv6835331 | Remapped | Perfect | NW_017852933.1:g.( 1029557_?)_(?_1096 631)del | GRCh38.p12 | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 1,029,557 | 1,096,631 |
| essv6779939 | Remapped | Perfect | NW_017852933.1:g.( 1029557_?)_(?_1096 638)del | GRCh38.p12 | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 1,029,557 | 1,096,638 |
| essv6696080 | Remapped | Perfect | NW_017852933.1:g.( 1029565_?)_(?_1096 641)del | GRCh38.p12 | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 1,029,565 | 1,096,641 |
| essv6862991 | Remapped | Perfect | NW_017852933.1:g.( 1029577_?)_(?_1096 637)del | GRCh38.p12 | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 1,029,577 | 1,096,637 |
| essv6924844 | Remapped | Perfect | NW_017852933.1:g.( 1029640_?)_(?_1096 618)del | GRCh38.p12 | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 1,029,640 | 1,096,618 |
| essv6846336 | Remapped | Perfect | NW_017852933.1:g.( 1029718_?)_(?_1096 537)del | GRCh38.p12 | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 1,029,718 | 1,096,537 |
| essv6696080 | Remapped | Perfect | NC_000016.10:g.(22 008397_?)_(?_22075 473)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 22,008,397 | 22,075,473 |
| essv6779939 | Remapped | Perfect | NC_000016.10:g.(22 008400_?)_(?_22075 481)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 22,008,400 | 22,075,481 |
| essv6862991 | Remapped | Perfect | NC_000016.10:g.(22 008401_?)_(?_22075 461)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 22,008,401 | 22,075,461 |
| essv6870087 | Remapped | Perfect | NC_000016.10:g.(22 008401_?)_(?_22075 512)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 22,008,401 | 22,075,512 |
| essv6721157 | Remapped | Perfect | NC_000016.10:g.(22 008402_?)_(?_22075 491)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 22,008,402 | 22,075,491 |
| essv6857983 | Remapped | Perfect | NC_000016.10:g.(22 008403_?)_(?_22075 483)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 22,008,403 | 22,075,483 |
| essv6940843 | Remapped | Perfect | NC_000016.10:g.(22 008403_?)_(?_22075 483)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 22,008,403 | 22,075,483 |
| essv6828196 | Remapped | Perfect | NC_000016.10:g.(22 008403_?)_(?_22075 490)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 22,008,403 | 22,075,490 |
| essv6839110 | Remapped | Perfect | NC_000016.10:g.(22 008404_?)_(?_22075 508)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 22,008,404 | 22,075,508 |
| essv6879828 | Remapped | Perfect | NC_000016.10:g.(22 008406_?)_(?_22075 482)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 22,008,406 | 22,075,482 |
| essv6835331 | Remapped | Perfect | NC_000016.10:g.(22 008407_?)_(?_22075 481)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 22,008,407 | 22,075,481 |
| essv6924844 | Remapped | Perfect | NC_000016.10:g.(22 008420_?)_(?_22075 398)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 22,008,420 | 22,075,398 |
| essv6898000 | Remapped | Perfect | NC_000016.10:g.(22 008421_?)_(?_22075 482)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 22,008,421 | 22,075,482 |
| essv6768874 | Remapped | Perfect | NC_000016.10:g.(22 008425_?)_(?_22075 484)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 22,008,425 | 22,075,484 |
| essv6688671 | Remapped | Perfect | NC_000016.10:g.(22 008468_?)_(?_22075 491)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 22,008,468 | 22,075,491 |
| essv6806748 | Remapped | Perfect | NC_000016.10:g.(22 008471_?)_(?_22075 496)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 22,008,471 | 22,075,496 |
| essv6735498 | Remapped | Perfect | NC_000016.10:g.(22 008485_?)_(?_22080 697)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 22,008,485 | 22,080,697 |
| essv6803845 | Remapped | Perfect | NC_000016.10:g.(22 008497_?)_(?_22075 507)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 22,008,497 | 22,075,507 |
| essv6846336 | Remapped | Perfect | NC_000016.10:g.(22 008501_?)_(?_22075 320)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 22,008,501 | 22,075,320 |
| essv6696080 | Submitted genomic | NC_000016.9:g.(220 19718_?)_(?_220867 94)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 22,019,718 | 22,086,794 | ||
| essv6779939 | Submitted genomic | NC_000016.9:g.(220 19721_?)_(?_220868 02)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 22,019,721 | 22,086,802 | ||
| essv6862991 | Submitted genomic | NC_000016.9:g.(220 19722_?)_(?_220867 82)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 22,019,722 | 22,086,782 | ||
| essv6870087 | Submitted genomic | NC_000016.9:g.(220 19722_?)_(?_220868 33)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 22,019,722 | 22,086,833 | ||
| essv6721157 | Submitted genomic | NC_000016.9:g.(220 19723_?)_(?_220868 12)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 22,019,723 | 22,086,812 | ||
| essv6857983 | Submitted genomic | NC_000016.9:g.(220 19724_?)_(?_220868 04)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 22,019,724 | 22,086,804 | ||
| essv6940843 | Submitted genomic | NC_000016.9:g.(220 19724_?)_(?_220868 04)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 22,019,724 | 22,086,804 | ||
| essv6828196 | Submitted genomic | NC_000016.9:g.(220 19724_?)_(?_220868 11)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 22,019,724 | 22,086,811 | ||
| essv6839110 | Submitted genomic | NC_000016.9:g.(220 19725_?)_(?_220868 29)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 22,019,725 | 22,086,829 | ||
| essv6879828 | Submitted genomic | NC_000016.9:g.(220 19727_?)_(?_220868 03)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 22,019,727 | 22,086,803 | ||
| essv6835331 | Submitted genomic | NC_000016.9:g.(220 19728_?)_(?_220868 02)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 22,019,728 | 22,086,802 | ||
| essv6924844 | Submitted genomic | NC_000016.9:g.(220 19741_?)_(?_220867 19)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 22,019,741 | 22,086,719 | ||
| essv6898000 | Submitted genomic | NC_000016.9:g.(220 19742_?)_(?_220868 03)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 22,019,742 | 22,086,803 | ||
| essv6768874 | Submitted genomic | NC_000016.9:g.(220 19746_?)_(?_220868 05)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 22,019,746 | 22,086,805 | ||
| essv6688671 | Submitted genomic | NC_000016.9:g.(220 19789_?)_(?_220868 12)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 22,019,789 | 22,086,812 | ||
| essv6806748 | Submitted genomic | NC_000016.9:g.(220 19792_?)_(?_220868 17)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 22,019,792 | 22,086,817 | ||
| essv6735498 | Submitted genomic | NC_000016.9:g.(220 19806_?)_(?_220920 18)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 22,019,806 | 22,092,018 | ||
| essv6803845 | Submitted genomic | NC_000016.9:g.(220 19818_?)_(?_220868 28)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 22,019,818 | 22,086,828 | ||
| essv6846336 | Submitted genomic | NC_000016.9:g.(220 19822_?)_(?_220866 41)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 22,019,822 | 22,086,641 |