esv2740148
- Organism: Homo sapiens
- Study:estd201 (Wong et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:21
- Validation:Not tested
- Clinical Assertions: No
- Region Size:29,812
- 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: 562 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 562 SVs from 61 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2740148 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 48,208,603 | 48,238,414 |
| esv2740148 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 48,068,038 | 48,097,849 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6849927 | deletion | SSM086 | Sequencing | Paired-end mapping | 5,602 |
| essv6915510 | deletion | SSM016 | Sequencing | Paired-end mapping | 3,081 |
| essv6829531 | deletion | SSM010 | Sequencing | Paired-end mapping | 2,433 |
| essv6734688 | deletion | SSM049 | Sequencing | Paired-end mapping | 2,250 |
| essv6855971 | deletion | SSM087 | Sequencing | Paired-end mapping | 5,379 |
| essv6939536 | deletion | SSM022 | Sequencing | Paired-end mapping | 3,696 |
| essv6944021 | deletion | SSM023 | Sequencing | Paired-end mapping | 4,243 |
| essv6927273 | deletion | SSM019 | Sequencing | Paired-end mapping | 3,034 |
| essv6746286 | deletion | SSM055 | Sequencing | Paired-end mapping | 2,550 |
| essv6876109 | deletion | SSM092 | Sequencing | Paired-end mapping | 2,676 |
| essv6975697 | deletion | SSM029 | Sequencing | Paired-end mapping | 6,569 |
| essv6740402 | deletion | SSM052 | Sequencing | Paired-end mapping | 3,000 |
| essv6892332 | deletion | SSM012 | Sequencing | Paired-end mapping | 3,093 |
| essv6757725 | deletion | SSM059 | Sequencing | Paired-end mapping | 2,245 |
| essv6765314 | deletion | SSM063 | Sequencing | Paired-end mapping | 2,124 |
| essv6964551 | deletion | SSM027 | Sequencing | Paired-end mapping | 5,772 |
| essv6841735 | deletion | SSM084 | Sequencing | Paired-end mapping | 3,545 |
| essv6731359 | deletion | SSM047 | Sequencing | Paired-end mapping | 3,502 |
| essv6674154 | deletion | SSM001 | Sequencing | Paired-end mapping | 2,205 |
| essv6690928 | deletion | SSM036 | Sequencing | Paired-end mapping | 3,136 |
| essv6732476 | deletion | SSM007 | Sequencing | Paired-end mapping | 2,647 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6849927 | Remapped | Perfect | NC_000023.11:g.(48 208603_?)_(?_48238 271)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,208,603 | 48,238,271 |
| essv6915510 | Remapped | Perfect | NC_000023.11:g.(48 208674_?)_(?_48238 349)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,208,674 | 48,238,349 |
| essv6829531 | Remapped | Perfect | NC_000023.11:g.(48 208684_?)_(?_48238 363)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,208,684 | 48,238,363 |
| essv6734688 | Remapped | Perfect | NC_000023.11:g.(48 208684_?)_(?_48238 524)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,208,684 | 48,238,524 |
| essv6855971 | Remapped | Perfect | NC_000023.11:g.(48 208727_?)_(?_48238 359)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,208,727 | 48,238,359 |
| essv6939536 | Remapped | Perfect | NC_000023.11:g.(48 208728_?)_(?_48238 355)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,208,728 | 48,238,355 |
| essv6944021 | Remapped | Perfect | NC_000023.11:g.(48 208728_?)_(?_48238 358)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,208,728 | 48,238,358 |
| essv6927273 | Remapped | Perfect | NC_000023.11:g.(48 208735_?)_(?_48238 359)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,208,735 | 48,238,359 |
| essv6746286 | Remapped | Perfect | NC_000023.11:g.(48 208736_?)_(?_48238 369)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,208,736 | 48,238,369 |
| essv6876109 | Remapped | Perfect | NC_000023.11:g.(48 208737_?)_(?_48238 414)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,208,737 | 48,238,414 |
| essv6975697 | Remapped | Perfect | NC_000023.11:g.(48 208739_?)_(?_48238 327)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,208,739 | 48,238,327 |
| essv6740402 | Remapped | Perfect | NC_000023.11:g.(48 208761_?)_(?_48238 359)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,208,761 | 48,238,359 |
| essv6892332 | Remapped | Perfect | NC_000023.11:g.(48 232286_?)_(?_48233 592)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,232,286 | 48,233,592 |
| essv6757725 | Remapped | Perfect | NC_000023.11:g.(48 232286_?)_(?_48233 688)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,232,286 | 48,233,688 |
| essv6765314 | Remapped | Perfect | NC_000023.11:g.(48 232286_?)_(?_48233 689)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,232,286 | 48,233,689 |
| essv6964551 | Remapped | Perfect | NC_000023.11:g.(48 232287_?)_(?_48233 692)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,232,287 | 48,233,692 |
| essv6841735 | Remapped | Perfect | NC_000023.11:g.(48 232290_?)_(?_48233 597)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,232,290 | 48,233,597 |
| essv6731359 | Remapped | Perfect | NC_000023.11:g.(48 232291_?)_(?_48233 688)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,232,291 | 48,233,688 |
| essv6674154 | Remapped | Perfect | NC_000023.11:g.(48 232293_?)_(?_48233 618)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,232,293 | 48,233,618 |
| essv6690928 | Remapped | Perfect | NC_000023.11:g.(48 232300_?)_(?_48233 618)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,232,300 | 48,233,618 |
| essv6732476 | Remapped | Perfect | NC_000023.11:g.(48 232334_?)_(?_48233 688)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,232,334 | 48,233,688 |
| essv6849927 | Submitted genomic | NC_000023.10:g.(48 068038_?)_(?_48097 706)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,068,038 | 48,097,706 | ||
| essv6915510 | Submitted genomic | NC_000023.10:g.(48 068109_?)_(?_48097 784)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,068,109 | 48,097,784 | ||
| essv6829531 | Submitted genomic | NC_000023.10:g.(48 068119_?)_(?_48097 798)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,068,119 | 48,097,798 | ||
| essv6734688 | Submitted genomic | NC_000023.10:g.(48 068119_?)_(?_48097 959)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,068,119 | 48,097,959 | ||
| essv6855971 | Submitted genomic | NC_000023.10:g.(48 068162_?)_(?_48097 794)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,068,162 | 48,097,794 | ||
| essv6939536 | Submitted genomic | NC_000023.10:g.(48 068163_?)_(?_48097 790)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,068,163 | 48,097,790 | ||
| essv6944021 | Submitted genomic | NC_000023.10:g.(48 068163_?)_(?_48097 793)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,068,163 | 48,097,793 | ||
| essv6927273 | Submitted genomic | NC_000023.10:g.(48 068170_?)_(?_48097 794)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,068,170 | 48,097,794 | ||
| essv6746286 | Submitted genomic | NC_000023.10:g.(48 068171_?)_(?_48097 804)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,068,171 | 48,097,804 | ||
| essv6876109 | Submitted genomic | NC_000023.10:g.(48 068172_?)_(?_48097 849)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,068,172 | 48,097,849 | ||
| essv6975697 | Submitted genomic | NC_000023.10:g.(48 068174_?)_(?_48097 762)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,068,174 | 48,097,762 | ||
| essv6740402 | Submitted genomic | NC_000023.10:g.(48 068196_?)_(?_48097 794)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,068,196 | 48,097,794 | ||
| essv6892332 | Submitted genomic | NC_000023.10:g.(48 091721_?)_(?_48093 027)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,091,721 | 48,093,027 | ||
| essv6757725 | Submitted genomic | NC_000023.10:g.(48 091721_?)_(?_48093 123)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,091,721 | 48,093,123 | ||
| essv6765314 | Submitted genomic | NC_000023.10:g.(48 091721_?)_(?_48093 124)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,091,721 | 48,093,124 | ||
| essv6964551 | Submitted genomic | NC_000023.10:g.(48 091722_?)_(?_48093 127)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,091,722 | 48,093,127 | ||
| essv6841735 | Submitted genomic | NC_000023.10:g.(48 091725_?)_(?_48093 032)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,091,725 | 48,093,032 | ||
| essv6731359 | Submitted genomic | NC_000023.10:g.(48 091726_?)_(?_48093 123)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,091,726 | 48,093,123 | ||
| essv6674154 | Submitted genomic | NC_000023.10:g.(48 091728_?)_(?_48093 053)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,091,728 | 48,093,053 | ||
| essv6690928 | Submitted genomic | NC_000023.10:g.(48 091735_?)_(?_48093 053)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,091,735 | 48,093,053 | ||
| essv6732476 | Submitted genomic | NC_000023.10:g.(48 091769_?)_(?_48093 123)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,091,769 | 48,093,123 |