esv2719070
- Organism: Homo sapiens
- Study:estd201 (Wong et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:456
- 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: 98 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 98 SVs from 33 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2719070 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 57,241,406 | 57,241,861 |
| esv2719070 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 57,752,774 | 57,753,229 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6843638 | deletion | SSM084 | Sequencing | Paired-end mapping | 3,545 |
| essv6885818 | deletion | SSM095 | Sequencing | Paired-end mapping | 2,453 |
| essv6699442 | deletion | SSM038 | Sequencing | Paired-end mapping | 2,327 |
| essv6874524 | deletion | SSM091 | Sequencing | Paired-end mapping | 2,687 |
| essv6780592 | deletion | SSM067 | Sequencing | Paired-end mapping | 3,533 |
| essv6933049 | deletion | SSM020 | Sequencing | Paired-end mapping | 3,809 |
| essv6871544 | deletion | SSM090 | Sequencing | Paired-end mapping | 2,691 |
| essv6895639 | deletion | SSM098 | Sequencing | Paired-end mapping | 3,190 |
| essv6793019 | deletion | SSM070 | Sequencing | Paired-end mapping | 3,746 |
| essv6946225 | deletion | SSM023 | Sequencing | Paired-end mapping | 4,243 |
| essv6832358 | deletion | SSM081 | Sequencing | Paired-end mapping | 3,222 |
| essv6692536 | deletion | SSM036 | Sequencing | Paired-end mapping | 3,136 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6843638 | Remapped | Perfect | NC_000019.10:g.(57 241406_?)_(?_57241 858)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,241,406 | 57,241,858 |
| essv6885818 | Remapped | Perfect | NC_000019.10:g.(57 241413_?)_(?_57241 788)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,241,413 | 57,241,788 |
| essv6699442 | Remapped | Perfect | NC_000019.10:g.(57 241417_?)_(?_57241 846)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,241,417 | 57,241,846 |
| essv6874524 | Remapped | Perfect | NC_000019.10:g.(57 241421_?)_(?_57241 861)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,241,421 | 57,241,861 |
| essv6780592 | Remapped | Perfect | NC_000019.10:g.(57 241424_?)_(?_57241 835)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,241,424 | 57,241,835 |
| essv6933049 | Remapped | Perfect | NC_000019.10:g.(57 241428_?)_(?_57241 843)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,241,428 | 57,241,843 |
| essv6871544 | Remapped | Perfect | NC_000019.10:g.(57 241431_?)_(?_57241 870)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,241,431 | 57,241,870 |
| essv6895639 | Remapped | Perfect | NC_000019.10:g.(57 241436_?)_(?_57241 852)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,241,436 | 57,241,852 |
| essv6793019 | Remapped | Perfect | NC_000019.10:g.(57 241438_?)_(?_57241 845)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,241,438 | 57,241,845 |
| essv6946225 | Remapped | Perfect | NC_000019.10:g.(57 241441_?)_(?_57241 845)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,241,441 | 57,241,845 |
| essv6832358 | Remapped | Perfect | NC_000019.10:g.(57 241441_?)_(?_57241 850)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,241,441 | 57,241,850 |
| essv6692536 | Remapped | Perfect | NC_000019.10:g.(57 241445_?)_(?_57241 838)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 57,241,445 | 57,241,838 |
| essv6843638 | Submitted genomic | NC_000019.9:g.(577 52774_?)_(?_577532 26)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 57,752,774 | 57,753,226 | ||
| essv6885818 | Submitted genomic | NC_000019.9:g.(577 52781_?)_(?_577531 56)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 57,752,781 | 57,753,156 | ||
| essv6699442 | Submitted genomic | NC_000019.9:g.(577 52785_?)_(?_577532 14)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 57,752,785 | 57,753,214 | ||
| essv6874524 | Submitted genomic | NC_000019.9:g.(577 52789_?)_(?_577532 29)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 57,752,789 | 57,753,229 | ||
| essv6780592 | Submitted genomic | NC_000019.9:g.(577 52792_?)_(?_577532 03)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 57,752,792 | 57,753,203 | ||
| essv6933049 | Submitted genomic | NC_000019.9:g.(577 52796_?)_(?_577532 11)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 57,752,796 | 57,753,211 | ||
| essv6871544 | Submitted genomic | NC_000019.9:g.(577 52799_?)_(?_577532 38)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 57,752,799 | 57,753,238 | ||
| essv6895639 | Submitted genomic | NC_000019.9:g.(577 52804_?)_(?_577532 20)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 57,752,804 | 57,753,220 | ||
| essv6793019 | Submitted genomic | NC_000019.9:g.(577 52806_?)_(?_577532 13)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 57,752,806 | 57,753,213 | ||
| essv6946225 | Submitted genomic | NC_000019.9:g.(577 52809_?)_(?_577532 13)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 57,752,809 | 57,753,213 | ||
| essv6832358 | Submitted genomic | NC_000019.9:g.(577 52809_?)_(?_577532 18)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 57,752,809 | 57,753,218 | ||
| essv6692536 | Submitted genomic | NC_000019.9:g.(577 52813_?)_(?_577532 06)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 57,752,813 | 57,753,206 |