esv3244495
- Organism: Homo sapiens
- Study:estd209 (Pang et al. 2014b)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:12,023
- Publication(s):Pang et al. 2014
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: 711 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 440 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 436 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 447 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 460 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 447 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 436 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 460 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 714 SVs from 86 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3244495 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 195,731,129 | 195,743,129 |
| esv3244495 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 51,614 | 63,577 |
| esv3244495 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 51,619 | 63,570 |
| esv3244495 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187678.1 | Chr3|NT_18 7678.1 | 52,915 | 64,915 |
| esv3244495 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_187689.1 | Chr3|NT_18 7689.1 | 101,626 | 113,626 |
| esv3244495 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 51,725 | 63,747 |
| esv3244495 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187649.1 | Chr3|NT_18 7649.1 | 51,619 | 63,570 |
| esv3244495 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187532.1 | Chr3|NT_18 7532.1 | 101,626 | 113,626 |
| esv3244495 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 195,458,000 | 195,470,000 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7514062 | duplication | HuRef | Sequencing | Read depth | 471,817 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7514062 | Remapped | Good | NT_187690.1:g.(?_5 1614)_(63577_?)dup | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 51,614 | 63,577 |
| essv7514062 | Remapped | Good | NT_187688.1:g.(?_5 1619)_(63570_?)dup | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 51,619 | 63,570 |
| essv7514062 | Remapped | Good | NT_187691.1:g.(?_5 1725)_(63747_?)dup | GRCh38.p12 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 51,725 | 63,747 |
| essv7514062 | Remapped | Perfect | NT_187678.1:g.(?_5 2915)_(64915_?)dup | GRCh38.p12 | Second Pass | NT_187678.1 | Chr3|NT_18 7678.1 | 52,915 | 64,915 |
| essv7514062 | Remapped | Perfect | NT_187689.1:g.(?_1 01626)_(113626_?)d up | GRCh38.p12 | Second Pass | NT_187689.1 | Chr3|NT_18 7689.1 | 101,626 | 113,626 |
| essv7514062 | Remapped | Good | NT_187649.1:g.(?_5 1619)_(63570_?)dup | GRCh38.p12 | Second Pass | NT_187649.1 | Chr3|NT_18 7649.1 | 51,619 | 63,570 |
| essv7514062 | Remapped | Perfect | NT_187532.1:g.(?_1 01626)_(113626_?)d up | GRCh38.p12 | Second Pass | NT_187532.1 | Chr3|NT_18 7532.1 | 101,626 | 113,626 |
| essv7514062 | Remapped | Perfect | NC_000003.12:g.(?_ 195731129)_(195743 129_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,731,129 | 195,743,129 |
| essv7514062 | Submitted genomic | NC_000003.11:g.(?_ 195458000)_(195470 000_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,458,000 | 195,470,000 |