esv3689112
- Organism: Homo sapiens
- Study:estd217 (Besenbacher et al. 2015)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Besenbacher 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: 402 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 32 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 402 SVs from 45 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3689112 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 1,164,264 | 1,164,264 |
esv3689112 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187655.1 | Chr8|NT_18 7655.1 | 22,818 | 22,818 |
esv3689112 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 1,114,264 | 1,114,264 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
essv16473279 | insertion | Sequencing | de novo sequence assembly |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv16473279 | Remapped | Perfect | NT_187655.1:g.2281 8_22819ins133 | GRCh38.p12 | Second Pass | NT_187655.1 | Chr8|NT_18 7655.1 | 22,818 | 22,818 |
essv16473279 | Remapped | Perfect | NC_000008.11:g.116 4264_1164265ins133 | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 1,164,264 | 1,164,264 |
essv16473279 | Submitted genomic | NC_000008.10:g.111 4264_1114265ins133 | GRCh37 (hg19) | NC_000008.10 | Chr8 | 1,114,264 | 1,114,264 |