esv2723905
- Organism: Homo sapiens
- Study:estd201 (Wong et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:22
- Validation:Not tested
- Clinical Assertions: No
- Region Size:85,212
- 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: 376 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 381 SVs from 57 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2723905 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 225,567,428 | 225,652,639 |
| esv2723905 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 225,755,130 | 225,840,341 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6950738 | deletion | SSM025 | Sequencing | Paired-end mapping | 3,743 |
| essv6878287 | deletion | SSM012 | Sequencing | Paired-end mapping | 3,093 |
| essv6951784 | deletion | SSM004 | Sequencing | Paired-end mapping | 2,859 |
| essv6696976 | deletion | SSM006 | Sequencing | Paired-end mapping | 2,080 |
| essv6666996 | deletion | SSM030 | Sequencing | Paired-end mapping | 1,792 |
| essv6733618 | deletion | SSM049 | Sequencing | Paired-end mapping | 2,250 |
| essv6736121 | deletion | SSM050 | Sequencing | Paired-end mapping | 2,538 |
| essv6832747 | deletion | SSM082 | Sequencing | Paired-end mapping | 3,227 |
| essv6902711 | deletion | SSM013 | Sequencing | Paired-end mapping | 3,240 |
| essv6961825 | deletion | SSM027 | Sequencing | Paired-end mapping | 5,772 |
| essv6786187 | deletion | SSM009 | Sequencing | Paired-end mapping | 2,898 |
| essv6756675 | deletion | SSM059 | Sequencing | Paired-end mapping | 2,245 |
| essv6874848 | deletion | SSM092 | Sequencing | Paired-end mapping | 2,676 |
| essv6738985 | deletion | SSM052 | Sequencing | Paired-end mapping | 3,000 |
| essv6917617 | deletion | SSM017 | Sequencing | Paired-end mapping | 3,873 |
| essv6955026 | deletion | SSM026 | Sequencing | Paired-end mapping | 6,124 |
| essv6769703 | deletion | SSM065 | Sequencing | Paired-end mapping | 3,542 |
| essv6813376 | deletion | SSM002 | Sequencing | Paired-end mapping | 2,248 |
| essv6689419 | deletion | SSM036 | Sequencing | Paired-end mapping | 3,136 |
| essv6682982 | deletion | SSM034 | Sequencing | Paired-end mapping | 2,996 |
| essv6972669 | deletion | SSM029 | Sequencing | Paired-end mapping | 6,569 |
| essv6950739 | deletion | SSM025 | Sequencing | Paired-end mapping | 3,743 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6950738 | Remapped | Perfect | NC_000001.11:g.(22 5567428_?)_(?_2256 52639)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,567,428 | 225,652,639 |
| essv6878287 | Remapped | Perfect | NC_000001.11:g.(22 5574392_?)_(?_2255 74837)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,574,392 | 225,574,837 |
| essv6951784 | Remapped | Perfect | NC_000001.11:g.(22 5574402_?)_(?_2255 74861)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,574,402 | 225,574,861 |
| essv6696976 | Remapped | Perfect | NC_000001.11:g.(22 5574448_?)_(?_2255 74865)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,574,448 | 225,574,865 |
| essv6666996 | Remapped | Perfect | NC_000001.11:g.(22 5574449_?)_(?_2255 74861)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,574,449 | 225,574,861 |
| essv6733618 | Remapped | Perfect | NC_000001.11:g.(22 5574449_?)_(?_2255 74877)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,574,449 | 225,574,877 |
| essv6736121 | Remapped | Perfect | NC_000001.11:g.(22 5574451_?)_(?_2255 74866)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,574,451 | 225,574,866 |
| essv6832747 | Remapped | Perfect | NC_000001.11:g.(22 5574535_?)_(?_2255 74871)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,574,535 | 225,574,871 |
| essv6902711 | Remapped | Perfect | NC_000001.11:g.(22 5574538_?)_(?_2255 74875)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,574,538 | 225,574,875 |
| essv6961825 | Remapped | Perfect | NC_000001.11:g.(22 5574538_?)_(?_2255 74900)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,574,538 | 225,574,900 |
| essv6786187 | Remapped | Perfect | NC_000001.11:g.(22 5574539_?)_(?_2255 74844)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,574,539 | 225,574,844 |
| essv6756675 | Remapped | Perfect | NC_000001.11:g.(22 5574539_?)_(?_2255 74863)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,574,539 | 225,574,863 |
| essv6874848 | Remapped | Perfect | NC_000001.11:g.(22 5574539_?)_(?_2255 74864)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,574,539 | 225,574,864 |
| essv6738985 | Remapped | Perfect | NC_000001.11:g.(22 5574539_?)_(?_2255 74866)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,574,539 | 225,574,866 |
| essv6917617 | Remapped | Perfect | NC_000001.11:g.(22 5574539_?)_(?_2255 74866)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,574,539 | 225,574,866 |
| essv6955026 | Remapped | Perfect | NC_000001.11:g.(22 5574539_?)_(?_2255 74884)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,574,539 | 225,574,884 |
| essv6769703 | Remapped | Perfect | NC_000001.11:g.(22 5574541_?)_(?_2255 74869)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,574,541 | 225,574,869 |
| essv6813376 | Remapped | Perfect | NC_000001.11:g.(22 5574541_?)_(?_2255 74875)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,574,541 | 225,574,875 |
| essv6689419 | Remapped | Perfect | NC_000001.11:g.(22 5574553_?)_(?_2255 74895)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,574,553 | 225,574,895 |
| essv6682982 | Remapped | Perfect | NC_000001.11:g.(22 5574575_?)_(?_2255 74901)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,574,575 | 225,574,901 |
| essv6972669 | Remapped | Perfect | NC_000001.11:g.(22 5574579_?)_(?_2255 74864)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,574,579 | 225,574,864 |
| essv6950739 | Remapped | Perfect | NC_000001.11:g.(22 5600348_?)_(?_2256 52639)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,600,348 | 225,652,639 |
| essv6950738 | Submitted genomic | NC_000001.10:g.(22 5755130_?)_(?_2258 40341)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,755,130 | 225,840,341 | ||
| essv6878287 | Submitted genomic | NC_000001.10:g.(22 5762094_?)_(?_2257 62539)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,762,094 | 225,762,539 | ||
| essv6951784 | Submitted genomic | NC_000001.10:g.(22 5762104_?)_(?_2257 62563)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,762,104 | 225,762,563 | ||
| essv6696976 | Submitted genomic | NC_000001.10:g.(22 5762150_?)_(?_2257 62567)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,762,150 | 225,762,567 | ||
| essv6666996 | Submitted genomic | NC_000001.10:g.(22 5762151_?)_(?_2257 62563)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,762,151 | 225,762,563 | ||
| essv6733618 | Submitted genomic | NC_000001.10:g.(22 5762151_?)_(?_2257 62579)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,762,151 | 225,762,579 | ||
| essv6736121 | Submitted genomic | NC_000001.10:g.(22 5762153_?)_(?_2257 62568)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,762,153 | 225,762,568 | ||
| essv6832747 | Submitted genomic | NC_000001.10:g.(22 5762237_?)_(?_2257 62573)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,762,237 | 225,762,573 | ||
| essv6902711 | Submitted genomic | NC_000001.10:g.(22 5762240_?)_(?_2257 62577)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,762,240 | 225,762,577 | ||
| essv6961825 | Submitted genomic | NC_000001.10:g.(22 5762240_?)_(?_2257 62602)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,762,240 | 225,762,602 | ||
| essv6786187 | Submitted genomic | NC_000001.10:g.(22 5762241_?)_(?_2257 62546)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,762,241 | 225,762,546 | ||
| essv6756675 | Submitted genomic | NC_000001.10:g.(22 5762241_?)_(?_2257 62565)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,762,241 | 225,762,565 | ||
| essv6874848 | Submitted genomic | NC_000001.10:g.(22 5762241_?)_(?_2257 62566)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,762,241 | 225,762,566 | ||
| essv6738985 | Submitted genomic | NC_000001.10:g.(22 5762241_?)_(?_2257 62568)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,762,241 | 225,762,568 | ||
| essv6917617 | Submitted genomic | NC_000001.10:g.(22 5762241_?)_(?_2257 62568)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,762,241 | 225,762,568 | ||
| essv6955026 | Submitted genomic | NC_000001.10:g.(22 5762241_?)_(?_2257 62586)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,762,241 | 225,762,586 | ||
| essv6769703 | Submitted genomic | NC_000001.10:g.(22 5762243_?)_(?_2257 62571)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,762,243 | 225,762,571 | ||
| essv6813376 | Submitted genomic | NC_000001.10:g.(22 5762243_?)_(?_2257 62577)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,762,243 | 225,762,577 | ||
| essv6689419 | Submitted genomic | NC_000001.10:g.(22 5762255_?)_(?_2257 62597)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,762,255 | 225,762,597 | ||
| essv6682982 | Submitted genomic | NC_000001.10:g.(22 5762277_?)_(?_2257 62603)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,762,277 | 225,762,603 | ||
| essv6972669 | Submitted genomic | NC_000001.10:g.(22 5762281_?)_(?_2257 62566)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,762,281 | 225,762,566 | ||
| essv6950739 | Submitted genomic | NC_000001.10:g.(22 5788050_?)_(?_2258 40341)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,788,050 | 225,840,341 |