esv2944902
- 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:56,001
- 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: 370 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 21 SVs from 6 studies. See in: genome view
Overlapping variant regions from other studies: 370 SVs from 59 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 |
---|---|---|---|---|---|---|---|---|---|
esv2944902 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 71,110,097 | 71,166,097 |
esv2944902 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_013171813.1 | Chr16|NW_0 13171813.1 | 1 | 28,806 |
esv2944902 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 71,144,000 | 71,200,000 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv7214469 | 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 |
---|---|---|---|---|---|---|---|---|---|
essv7214469 | Remapped | Pass | NW_013171813.1:g.( ?_1)_(28806_?)dup | GRCh38.p12 | Second Pass | NW_013171813.1 | Chr16|NW_0 13171813.1 | 1 | 28,806 |
essv7214469 | Remapped | Perfect | NC_000016.10:g.(?_ 71110097)_(7116609 7_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 71,110,097 | 71,166,097 |
essv7214469 | Submitted genomic | NC_000016.9:g.(?_7 1144000)_(71200000 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,144,000 | 71,200,000 |