esv2718557
- Organism: Homo sapiens
- Study:estd201 (Wong et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:17,591
- 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: 82 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 356 SVs from 62 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| esv2718557 | Remapped | Pass | GRCh38.p12 | PATCHES | First Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | - | 157,796 | 175,386 |
| esv2718557 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 40,374,016 | - | 40,406,150 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6756347 | deletion | SSM058 | Sequencing | Paired-end mapping | 2,747 |
| essv6741909 | deletion | SSM052 | Sequencing | Paired-end mapping | 3,000 |
| essv6776687 | deletion | SSM066 | Sequencing | Paired-end mapping | 3,133 |
| essv6758882 | deletion | SSM059 | Sequencing | Paired-end mapping | 2,245 |
| essv6954378 | deletion | SSM025 | Sequencing | Paired-end mapping | 3,743 |
| essv6753314 | deletion | SSM057 | Sequencing | Paired-end mapping | 2,605 |
| essv6820908 | deletion | SSM078 | Sequencing | Paired-end mapping | 4,128 |
| essv6783043 | deletion | SSM001 | Sequencing | Paired-end mapping | 2,205 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| essv6756347 | Remapped | Pass | NW_009646206.1:g.( ?_157796)_(?_17523 8)del | GRCh38.p12 | First Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | - | 157,796 | 175,238 |
| essv6741909 | Remapped | Pass | NW_009646206.1:g.( ?_157796)_(?_17536 8)del | GRCh38.p12 | First Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | - | 157,796 | 175,368 |
| essv6776687 | Remapped | Pass | NW_009646206.1:g.( ?_157796)_(?_17537 1)del | GRCh38.p12 | First Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | - | 157,796 | 175,371 |
| essv6758882 | Remapped | Pass | NW_009646206.1:g.( ?_157796)_(?_17537 4)del | GRCh38.p12 | First Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | - | 157,796 | 175,374 |
| essv6954378 | Remapped | Pass | NW_009646206.1:g.( ?_157796)_(?_17537 4)del | GRCh38.p12 | First Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | - | 157,796 | 175,374 |
| essv6753314 | Remapped | Pass | NW_009646206.1:g.( ?_157796)_(?_17537 5)del | GRCh38.p12 | First Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | - | 157,796 | 175,375 |
| essv6820908 | Remapped | Pass | NW_009646206.1:g.( ?_157796)_(?_17538 6)del | GRCh38.p12 | First Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | - | 157,796 | 175,386 |
| essv6783043 | Remapped | Perfect | NW_009646206.1:g.( 158976_?)_(?_17537 5)del | GRCh38.p12 | First Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | 158,976 | - | 175,375 |
| essv6776687 | Submitted genomic | NC_000019.9:g.(403 74016_?)_(?_404061 35)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,374,016 | - | 40,406,135 | ||
| essv6820908 | Submitted genomic | NC_000019.9:g.(403 74016_?)_(?_404061 50)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,374,016 | - | 40,406,150 | ||
| essv6741909 | Submitted genomic | NC_000019.9:g.(403 74019_?)_(?_404061 32)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,374,019 | - | 40,406,132 | ||
| essv6758882 | Submitted genomic | NC_000019.9:g.(403 74022_?)_(?_404061 38)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,374,022 | - | 40,406,138 | ||
| essv6753314 | Submitted genomic | NC_000019.9:g.(403 74024_?)_(?_404061 39)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,374,024 | - | 40,406,139 | ||
| essv6756347 | Submitted genomic | NC_000019.9:g.(403 74026_?)_(?_404060 02)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,374,026 | - | 40,406,002 | ||
| essv6954378 | Submitted genomic | NC_000019.9:g.(403 74029_?)_(?_404061 38)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,374,029 | - | 40,406,138 | ||
| essv6783043 | Submitted genomic | NC_000019.9:g.(403 89740_?)_(?_404061 39)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,389,740 | - | 40,406,139 |