esv3645184
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5
- 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: 120 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 120 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3645184 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 9,301,931 (-0, +5) | 9,301,935 (-5, +0) |
| esv3645184 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 9,282,578 (-0, +5) | 9,282,582 (-5, +0) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv16139489 | insertion | SAMN01091116 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,495 |
| essv16139490 | insertion | SAMN00263050 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,870 |
| essv16139491 | insertion | SAMN01761412 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,341 |
| essv16139492 | insertion | SAMN00000425 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,630 |
| essv16139493 | insertion | SAMN00000429 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,746 |
| essv16139494 | insertion | SAMN00000445 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,870 |
| essv16139495 | insertion | SAMN00000448 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,692 |
| essv16139496 | insertion | SAMN00000505 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,719 |
| essv16139497 | insertion | SAMN00000520 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,779 |
| essv16139498 | insertion | SAMN00000530 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,918 |
| essv16139499 | insertion | SAMN00007904 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,791 |
| essv16139500 | insertion | SAMN00007945 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,490 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16139489 | Remapped | Perfect | NC_000020.11:g.(93 01931_9301936)_(93 01930_9301935)ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,301,931 (-0, +5) | 9,301,935 (-5, +0) |
| essv16139490 | Remapped | Perfect | NC_000020.11:g.(93 01931_9301936)_(93 01930_9301935)ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,301,931 (-0, +5) | 9,301,935 (-5, +0) |
| essv16139491 | Remapped | Perfect | NC_000020.11:g.(93 01931_9301936)_(93 01930_9301935)ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,301,931 (-0, +5) | 9,301,935 (-5, +0) |
| essv16139492 | Remapped | Perfect | NC_000020.11:g.(93 01931_9301936)_(93 01930_9301935)ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,301,931 (-0, +5) | 9,301,935 (-5, +0) |
| essv16139493 | Remapped | Perfect | NC_000020.11:g.(93 01931_9301936)_(93 01930_9301935)ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,301,931 (-0, +5) | 9,301,935 (-5, +0) |
| essv16139494 | Remapped | Perfect | NC_000020.11:g.(93 01931_9301936)_(93 01930_9301935)ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,301,931 (-0, +5) | 9,301,935 (-5, +0) |
| essv16139495 | Remapped | Perfect | NC_000020.11:g.(93 01931_9301936)_(93 01930_9301935)ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,301,931 (-0, +5) | 9,301,935 (-5, +0) |
| essv16139496 | Remapped | Perfect | NC_000020.11:g.(93 01931_9301936)_(93 01930_9301935)ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,301,931 (-0, +5) | 9,301,935 (-5, +0) |
| essv16139497 | Remapped | Perfect | NC_000020.11:g.(93 01931_9301936)_(93 01930_9301935)ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,301,931 (-0, +5) | 9,301,935 (-5, +0) |
| essv16139498 | Remapped | Perfect | NC_000020.11:g.(93 01931_9301936)_(93 01930_9301935)ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,301,931 (-0, +5) | 9,301,935 (-5, +0) |
| essv16139499 | Remapped | Perfect | NC_000020.11:g.(93 01931_9301936)_(93 01930_9301935)ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,301,931 (-0, +5) | 9,301,935 (-5, +0) |
| essv16139500 | Remapped | Perfect | NC_000020.11:g.(93 01931_9301936)_(93 01930_9301935)ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,301,931 (-0, +5) | 9,301,935 (-5, +0) |
| essv16139489 | Submitted genomic | NC_000020.10:g.(92 82578_9282583)_(92 82577_9282582)ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,282,578 (-0, +5) | 9,282,582 (-5, +0) | ||
| essv16139490 | Submitted genomic | NC_000020.10:g.(92 82578_9282583)_(92 82577_9282582)ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,282,578 (-0, +5) | 9,282,582 (-5, +0) | ||
| essv16139491 | Submitted genomic | NC_000020.10:g.(92 82578_9282583)_(92 82577_9282582)ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,282,578 (-0, +5) | 9,282,582 (-5, +0) | ||
| essv16139492 | Submitted genomic | NC_000020.10:g.(92 82578_9282583)_(92 82577_9282582)ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,282,578 (-0, +5) | 9,282,582 (-5, +0) | ||
| essv16139493 | Submitted genomic | NC_000020.10:g.(92 82578_9282583)_(92 82577_9282582)ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,282,578 (-0, +5) | 9,282,582 (-5, +0) | ||
| essv16139494 | Submitted genomic | NC_000020.10:g.(92 82578_9282583)_(92 82577_9282582)ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,282,578 (-0, +5) | 9,282,582 (-5, +0) | ||
| essv16139495 | Submitted genomic | NC_000020.10:g.(92 82578_9282583)_(92 82577_9282582)ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,282,578 (-0, +5) | 9,282,582 (-5, +0) | ||
| essv16139496 | Submitted genomic | NC_000020.10:g.(92 82578_9282583)_(92 82577_9282582)ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,282,578 (-0, +5) | 9,282,582 (-5, +0) | ||
| essv16139497 | Submitted genomic | NC_000020.10:g.(92 82578_9282583)_(92 82577_9282582)ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,282,578 (-0, +5) | 9,282,582 (-5, +0) | ||
| essv16139498 | Submitted genomic | NC_000020.10:g.(92 82578_9282583)_(92 82577_9282582)ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,282,578 (-0, +5) | 9,282,582 (-5, +0) | ||
| essv16139499 | Submitted genomic | NC_000020.10:g.(92 82578_9282583)_(92 82577_9282582)ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,282,578 (-0, +5) | 9,282,582 (-5, +0) | ||
| essv16139500 | Submitted genomic | NC_000020.10:g.(92 82578_9282583)_(92 82577_9282582)ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,282,578 (-0, +5) | 9,282,582 (-5, +0) |