esv2736489
- Organism: Homo sapiens
- Study:estd201 (Wong et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:23
- Validation:Not tested
- Clinical Assertions: No
- Region Size:39,911
- 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: 660 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 660 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2736489 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 4,466,608 | 4,506,518 |
| esv2736489 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 4,324,130 | 4,364,040 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6919476 | deletion | SSM017 | Sequencing | Paired-end mapping | 3,873 |
| essv6975875 | deletion | SSM029 | Sequencing | Paired-end mapping | 6,569 |
| essv6765372 | deletion | SSM063 | Sequencing | Paired-end mapping | 2,124 |
| essv6755003 | deletion | SSM058 | Sequencing | Paired-end mapping | 2,747 |
| essv6667889 | deletion | SSM030 | Sequencing | Paired-end mapping | 1,792 |
| essv6737403 | deletion | SSM050 | Sequencing | Paired-end mapping | 2,538 |
| essv6760482 | deletion | SSM061 | Sequencing | Paired-end mapping | 2,539 |
| essv6762972 | deletion | SSM062 | Sequencing | Paired-end mapping | 2,079 |
| essv6743556 | deletion | SSM053 | Sequencing | Paired-end mapping | 2,524 |
| essv6818879 | deletion | SSM078 | Sequencing | Paired-end mapping | 4,128 |
| essv6734760 | deletion | SSM049 | Sequencing | Paired-end mapping | 2,250 |
| essv6752063 | deletion | SSM057 | Sequencing | Paired-end mapping | 2,605 |
| essv6749185 | deletion | SSM056 | Sequencing | Paired-end mapping | 2,545 |
| essv6935352 | deletion | SSM021 | Sequencing | Paired-end mapping | 3,936 |
| essv6834318 | deletion | SSM082 | Sequencing | Paired-end mapping | 3,227 |
| essv6841804 | deletion | SSM084 | Sequencing | Paired-end mapping | 3,545 |
| essv6881844 | deletion | SSM094 | Sequencing | Paired-end mapping | 2,544 |
| essv6850094 | deletion | SSM086 | Sequencing | Paired-end mapping | 5,602 |
| essv6861551 | deletion | SSM088 | Sequencing | Paired-end mapping | 4,275 |
| essv6672015 | deletion | SSM031 | Sequencing | Paired-end mapping | 5,663 |
| essv6964670 | deletion | SSM027 | Sequencing | Paired-end mapping | 5,772 |
| essv6856121 | deletion | SSM087 | Sequencing | Paired-end mapping | 5,379 |
| essv6958039 | deletion | SSM026 | Sequencing | Paired-end mapping | 6,124 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6919476 | Remapped | Perfect | NC_000008.11:g.(44 66608_?)_(?_450651 8)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,466,608 | 4,506,518 |
| essv6975875 | Remapped | Perfect | NC_000008.11:g.(44 85700_?)_(?_448648 6)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,485,700 | 4,486,486 |
| essv6765372 | Remapped | Perfect | NC_000008.11:g.(44 85705_?)_(?_448696 4)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,485,705 | 4,486,964 |
| essv6755003 | Remapped | Perfect | NC_000008.11:g.(44 85740_?)_(?_448652 0)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,485,740 | 4,486,520 |
| essv6667889 | Remapped | Perfect | NC_000008.11:g.(44 85813_?)_(?_448691 1)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,485,813 | 4,486,911 |
| essv6737403 | Remapped | Perfect | NC_000008.11:g.(44 85819_?)_(?_448649 8)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,485,819 | 4,486,498 |
| essv6760482 | Remapped | Perfect | NC_000008.11:g.(44 85870_?)_(?_448649 4)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,485,870 | 4,486,494 |
| essv6762972 | Remapped | Perfect | NC_000008.11:g.(44 85875_?)_(?_448652 1)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,485,875 | 4,486,521 |
| essv6743556 | Remapped | Perfect | NC_000008.11:g.(44 85883_?)_(?_448655 0)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,485,883 | 4,486,550 |
| essv6818879 | Remapped | Perfect | NC_000008.11:g.(44 85885_?)_(?_448648 6)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,485,885 | 4,486,486 |
| essv6734760 | Remapped | Perfect | NC_000008.11:g.(44 85887_?)_(?_448654 1)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,485,887 | 4,486,541 |
| essv6752063 | Remapped | Perfect | NC_000008.11:g.(44 85897_?)_(?_448646 1)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,485,897 | 4,486,461 |
| essv6749185 | Remapped | Perfect | NC_000008.11:g.(44 85900_?)_(?_448646 1)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,485,900 | 4,486,461 |
| essv6935352 | Remapped | Perfect | NC_000008.11:g.(44 85905_?)_(?_448646 6)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,485,905 | 4,486,466 |
| essv6834318 | Remapped | Perfect | NC_000008.11:g.(44 86006_?)_(?_448623 3)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,486,006 | 4,486,233 |
| essv6841804 | Remapped | Perfect | NC_000008.11:g.(44 86041_?)_(?_448623 9)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,486,041 | 4,486,239 |
| essv6881844 | Remapped | Perfect | NC_000008.11:g.(44 86126_?)_(?_448627 4)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,486,126 | 4,486,274 |
| essv6850094 | Remapped | Perfect | NC_000008.11:g.(44 86153_?)_(?_448624 4)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,486,153 | 4,486,244 |
| essv6861551 | Remapped | Perfect | NC_000008.11:g.(44 86155_?)_(?_448622 7)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,486,155 | 4,486,227 |
| essv6672015 | Remapped | Perfect | NC_000008.11:g.(44 86157_?)_(?_448623 0)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,486,157 | 4,486,230 |
| essv6964670 | Remapped | Perfect | NC_000008.11:g.(44 86159_?)_(?_448621 9)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,486,159 | 4,486,219 |
| essv6856121 | Remapped | Perfect | NC_000008.11:g.(44 86160_?)_(?_448623 9)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,486,160 | 4,486,239 |
| essv6958039 | Remapped | Perfect | NC_000008.11:g.(44 86178_?)_(?_448623 2)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,486,178 | 4,486,232 |
| essv6919476 | Submitted genomic | NC_000008.10:g.(43 24130_?)_(?_436404 0)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 4,324,130 | 4,364,040 | ||
| essv6975875 | Submitted genomic | NC_000008.10:g.(43 43222_?)_(?_434400 8)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 4,343,222 | 4,344,008 | ||
| essv6765372 | Submitted genomic | NC_000008.10:g.(43 43227_?)_(?_434448 6)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 4,343,227 | 4,344,486 | ||
| essv6755003 | Submitted genomic | NC_000008.10:g.(43 43262_?)_(?_434404 2)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 4,343,262 | 4,344,042 | ||
| essv6667889 | Submitted genomic | NC_000008.10:g.(43 43335_?)_(?_434443 3)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 4,343,335 | 4,344,433 | ||
| essv6737403 | Submitted genomic | NC_000008.10:g.(43 43341_?)_(?_434402 0)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 4,343,341 | 4,344,020 | ||
| essv6760482 | Submitted genomic | NC_000008.10:g.(43 43392_?)_(?_434401 6)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 4,343,392 | 4,344,016 | ||
| essv6762972 | Submitted genomic | NC_000008.10:g.(43 43397_?)_(?_434404 3)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 4,343,397 | 4,344,043 | ||
| essv6743556 | Submitted genomic | NC_000008.10:g.(43 43405_?)_(?_434407 2)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 4,343,405 | 4,344,072 | ||
| essv6818879 | Submitted genomic | NC_000008.10:g.(43 43407_?)_(?_434400 8)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 4,343,407 | 4,344,008 | ||
| essv6734760 | Submitted genomic | NC_000008.10:g.(43 43409_?)_(?_434406 3)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 4,343,409 | 4,344,063 | ||
| essv6752063 | Submitted genomic | NC_000008.10:g.(43 43419_?)_(?_434398 3)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 4,343,419 | 4,343,983 | ||
| essv6749185 | Submitted genomic | NC_000008.10:g.(43 43422_?)_(?_434398 3)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 4,343,422 | 4,343,983 | ||
| essv6935352 | Submitted genomic | NC_000008.10:g.(43 43427_?)_(?_434398 8)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 4,343,427 | 4,343,988 | ||
| essv6834318 | Submitted genomic | NC_000008.10:g.(43 43528_?)_(?_434375 5)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 4,343,528 | 4,343,755 | ||
| essv6841804 | Submitted genomic | NC_000008.10:g.(43 43563_?)_(?_434376 1)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 4,343,563 | 4,343,761 | ||
| essv6881844 | Submitted genomic | NC_000008.10:g.(43 43648_?)_(?_434379 6)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 4,343,648 | 4,343,796 | ||
| essv6850094 | Submitted genomic | NC_000008.10:g.(43 43675_?)_(?_434376 6)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 4,343,675 | 4,343,766 | ||
| essv6861551 | Submitted genomic | NC_000008.10:g.(43 43677_?)_(?_434374 9)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 4,343,677 | 4,343,749 | ||
| essv6672015 | Submitted genomic | NC_000008.10:g.(43 43679_?)_(?_434375 2)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 4,343,679 | 4,343,752 | ||
| essv6964670 | Submitted genomic | NC_000008.10:g.(43 43681_?)_(?_434374 1)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 4,343,681 | 4,343,741 | ||
| essv6856121 | Submitted genomic | NC_000008.10:g.(43 43682_?)_(?_434376 1)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 4,343,682 | 4,343,761 | ||
| essv6958039 | Submitted genomic | NC_000008.10:g.(43 43700_?)_(?_434375 4)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 4,343,700 | 4,343,754 |