esv3817453
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:delins
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):1000 Genomes Project Consortium 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: 848 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 849 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3817453 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 1,474,986 | 1,474,986 |
| esv3817453 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 1,593,879 | 1,593,879 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv16868464 | delins | SAMN00014344 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,999 |
| essv16868465 | delins | SAMN00630218 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,037 |
| essv16868466 | delins | SAMN00630226 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,053 |
| essv16868467 | delins | SAMN01036707 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,285 |
| essv16868468 | delins | SAMN00779985 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,290 |
| essv16868469 | delins | SAMN01761239 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,286 |
| essv16868470 | delins | SAMN01090877 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,074 |
| essv16868471 | delins | SAMN01090754 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,921 |
| essv16868472 | delins | SAMN01761264 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,514 |
| essv16868473 | delins | SAMN00001150 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,142 |
| essv16868474 | delins | SAMN00001173 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,262 |
| essv16868475 | delins | SAMN00007818 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,857 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16868464 | Remapped | Perfect | NC_000023.11:g.147 4986delins73 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 1,474,986 | 1,474,986 |
| essv16868465 | Remapped | Perfect | NC_000023.11:g.147 4986delins73 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 1,474,986 | 1,474,986 |
| essv16868466 | Remapped | Perfect | NC_000023.11:g.147 4986delins73 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 1,474,986 | 1,474,986 |
| essv16868467 | Remapped | Perfect | NC_000023.11:g.147 4986delins73 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 1,474,986 | 1,474,986 |
| essv16868468 | Remapped | Perfect | NC_000023.11:g.147 4986delins73 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 1,474,986 | 1,474,986 |
| essv16868469 | Remapped | Perfect | NC_000023.11:g.147 4986delins73 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 1,474,986 | 1,474,986 |
| essv16868470 | Remapped | Perfect | NC_000023.11:g.147 4986delins73 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 1,474,986 | 1,474,986 |
| essv16868471 | Remapped | Perfect | NC_000023.11:g.147 4986delins73 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 1,474,986 | 1,474,986 |
| essv16868472 | Remapped | Perfect | NC_000023.11:g.147 4986delins73 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 1,474,986 | 1,474,986 |
| essv16868473 | Remapped | Perfect | NC_000023.11:g.147 4986delins73 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 1,474,986 | 1,474,986 |
| essv16868474 | Remapped | Perfect | NC_000023.11:g.147 4986delins73 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 1,474,986 | 1,474,986 |
| essv16868475 | Remapped | Perfect | NC_000023.11:g.147 4986delins73 | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 1,474,986 | 1,474,986 |
| essv16868464 | Submitted genomic | NC_000023.10:g.159 3879delinsGTGGGAGG ATGGGTGAATGGATGTAT GATGAATGGATGAGGATG GGTAGATGGATGGGTGAA TGGATAGATGG | GRCh37 (hg19) | NC_000023.10 | ChrX | 1,593,879 | 1,593,879 | ||
| essv16868465 | Submitted genomic | NC_000023.10:g.159 3879delinsGTGGGAGG ATGGGTGAATGGATGTAT GATGAATGGATGAGGATG GGTAGATGGATGGGTGAA TGGATAGATGG | GRCh37 (hg19) | NC_000023.10 | ChrX | 1,593,879 | 1,593,879 | ||
| essv16868466 | Submitted genomic | NC_000023.10:g.159 3879delinsGTGGGAGG ATGGGTGAATGGATGTAT GATGAATGGATGAGGATG GGTAGATGGATGGGTGAA TGGATAGATGG | GRCh37 (hg19) | NC_000023.10 | ChrX | 1,593,879 | 1,593,879 | ||
| essv16868467 | Submitted genomic | NC_000023.10:g.159 3879delinsGTGGGAGG ATGGGTGAATGGATGTAT GATGAATGGATGAGGATG GGTAGATGGATGGGTGAA TGGATAGATGG | GRCh37 (hg19) | NC_000023.10 | ChrX | 1,593,879 | 1,593,879 | ||
| essv16868468 | Submitted genomic | NC_000023.10:g.159 3879delinsGTGGGAGG ATGGGTGAATGGATGTAT GATGAATGGATGAGGATG GGTAGATGGATGGGTGAA TGGATAGATGG | GRCh37 (hg19) | NC_000023.10 | ChrX | 1,593,879 | 1,593,879 | ||
| essv16868469 | Submitted genomic | NC_000023.10:g.159 3879delinsGTGGGAGG ATGGGTGAATGGATGTAT GATGAATGGATGAGGATG GGTAGATGGATGGGTGAA TGGATAGATGG | GRCh37 (hg19) | NC_000023.10 | ChrX | 1,593,879 | 1,593,879 | ||
| essv16868470 | Submitted genomic | NC_000023.10:g.159 3879delinsGTGGGAGG ATGGGTGAATGGATGTAT GATGAATGGATGAGGATG GGTAGATGGATGGGTGAA TGGATAGATGG | GRCh37 (hg19) | NC_000023.10 | ChrX | 1,593,879 | 1,593,879 | ||
| essv16868471 | Submitted genomic | NC_000023.10:g.159 3879delinsGTGGGAGG ATGGGTGAATGGATGTAT GATGAATGGATGAGGATG GGTAGATGGATGGGTGAA TGGATAGATGG | GRCh37 (hg19) | NC_000023.10 | ChrX | 1,593,879 | 1,593,879 | ||
| essv16868472 | Submitted genomic | NC_000023.10:g.159 3879delinsGTGGGAGG ATGGGTGAATGGATGTAT GATGAATGGATGAGGATG GGTAGATGGATGGGTGAA TGGATAGATGG | GRCh37 (hg19) | NC_000023.10 | ChrX | 1,593,879 | 1,593,879 | ||
| essv16868473 | Submitted genomic | NC_000023.10:g.159 3879delinsGTGGGAGG ATGGGTGAATGGATGTAT GATGAATGGATGAGGATG GGTAGATGGATGGGTGAA TGGATAGATGG | GRCh37 (hg19) | NC_000023.10 | ChrX | 1,593,879 | 1,593,879 | ||
| essv16868474 | Submitted genomic | NC_000023.10:g.159 3879delinsGTGGGAGG ATGGGTGAATGGATGTAT GATGAATGGATGAGGATG GGTAGATGGATGGGTGAA TGGATAGATGG | GRCh37 (hg19) | NC_000023.10 | ChrX | 1,593,879 | 1,593,879 | ||
| essv16868475 | Submitted genomic | NC_000023.10:g.159 3879delinsGTGGGAGG ATGGGTGAATGGATGTAT GATGAATGGATGAGGATG GGTAGATGGATGGGTGAA TGGATAGATGG | GRCh37 (hg19) | NC_000023.10 | ChrX | 1,593,879 | 1,593,879 |