esv3987803
- Organism: Homo sapiens
- Study:estd229 (Fakhro et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array, Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:14,850
- Publication(s):Fakhro et al. 2015
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: 272 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 106 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 305 SVs from 58 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3987803 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 39,882,011 | 39,896,860 |
| esv3987803 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | 141,887 | 156,736 |
| esv3987803 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 40,372,651 | 40,387,500 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv26037993 | deletion | DGMQ-31725 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,478 |
| essv26006384 | deletion | DGMQ-32121 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,702 |
| essv25971553 | deletion | DGMQ-32118 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,534 |
| essv25964584 | deletion | DGMQ-31617 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,636 |
| essv26006383 | deletion | DGMQ-32121 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,702 |
| essv26022273 | deletion | DGMQ-31724 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,583 |
| essv25943006 | deletion | DGMQ-32273 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,592 |
| essv25948564 | deletion | DGMQ-31105 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,808 |
| essv25957754 | deletion | DGMQ-31433 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,606 |
| essv25987352 | deletion | DGMQ-32219 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,608 |
| essv26015342 | deletion | DGMQ-32200 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 1 | 1,679 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv26037993 | Remapped | Perfect | NW_009646206.1:g.( 144137_?)_(?_15673 6)del | GRCh38.p12 | Second Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | 144,137 | 156,736 |
| essv26006384 | Remapped | Perfect | NW_009646206.1:g.( 149087_?)_(?_15178 6)del | GRCh38.p12 | Second Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | 149,087 | 151,786 |
| essv25971553 | Remapped | Perfect | NW_009646206.1:g.( 154037_?)_(?_15673 6)del | GRCh38.p12 | Second Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | 154,037 | 156,736 |
| essv25964584 | Remapped | Perfect | NC_000019.10:g.(39 882011_?)_(?_39886 060)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 39,882,011 | 39,886,060 |
| essv26006383 | Remapped | Perfect | NC_000019.10:g.(39 882011_?)_(?_39886 060)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 39,882,011 | 39,886,060 |
| essv26022273 | Remapped | Perfect | NC_000019.10:g.(39 882011_?)_(?_39892 810)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 39,882,011 | 39,892,810 |
| essv25943006 | Remapped | Perfect | NC_000019.10:g.(39 884261_?)_(?_39886 960)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 39,884,261 | 39,886,960 |
| essv25948564 | Remapped | Perfect | NC_000019.10:g.(39 884261_?)_(?_39886 960)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 39,884,261 | 39,886,960 |
| essv25957754 | Remapped | Perfect | NC_000019.10:g.(39 884261_?)_(?_39886 960)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 39,884,261 | 39,886,960 |
| essv25987352 | Remapped | Perfect | NC_000019.10:g.(39 884261_?)_(?_39886 960)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 39,884,261 | 39,886,960 |
| essv26015342 | Remapped | Perfect | NC_000019.10:g.(39 884261_?)_(?_39886 960)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 39,884,261 | 39,886,960 |
| essv26037993 | Remapped | Perfect | NC_000019.10:g.(39 884261_?)_(?_39896 860)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 39,884,261 | 39,896,860 |
| essv26006384 | Remapped | Perfect | NC_000019.10:g.(39 889211_?)_(?_39891 910)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 39,889,211 | 39,891,910 |
| essv25971553 | Remapped | Perfect | NC_000019.10:g.(39 894161_?)_(?_39896 860)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 39,894,161 | 39,896,860 |
| essv25964584 | Submitted genomic | NC_000019.9:g.(403 72651_?)_(?_403767 00)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,372,651 | 40,376,700 | ||
| essv26006383 | Submitted genomic | NC_000019.9:g.(403 72651_?)_(?_403767 00)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,372,651 | 40,376,700 | ||
| essv26022273 | Submitted genomic | NC_000019.9:g.(403 72651_?)_(?_403834 50)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,372,651 | 40,383,450 | ||
| essv25943006 | Submitted genomic | NC_000019.9:g.(403 74901_?)_(?_403776 00)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,374,901 | 40,377,600 | ||
| essv25948564 | Submitted genomic | NC_000019.9:g.(403 74901_?)_(?_403776 00)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,374,901 | 40,377,600 | ||
| essv25957754 | Submitted genomic | NC_000019.9:g.(403 74901_?)_(?_403776 00)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,374,901 | 40,377,600 | ||
| essv25987352 | Submitted genomic | NC_000019.9:g.(403 74901_?)_(?_403776 00)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,374,901 | 40,377,600 | ||
| essv26015342 | Submitted genomic | NC_000019.9:g.(403 74901_?)_(?_403776 00)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,374,901 | 40,377,600 | ||
| essv26037993 | Submitted genomic | NC_000019.9:g.(403 74901_?)_(?_403875 00)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,374,901 | 40,387,500 | ||
| essv26006384 | Submitted genomic | NC_000019.9:g.(403 79851_?)_(?_403825 50)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,379,851 | 40,382,550 | ||
| essv25971553 | Submitted genomic | NC_000019.9:g.(403 84801_?)_(?_403875 00)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,384,801 | 40,387,500 |