esv3643774
- 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: 115 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3643774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 15,630,046 (-0, +5) | 15,630,050 (-5, +0) |
| esv3643774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 15,740,856 (-0, +5) | 15,740,860 (-5, +0) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv16000623 | insertion | SAMN00004647 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,660 |
| essv16000624 | insertion | SAMN00006377 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,795 |
| essv16000625 | insertion | SAMN00009114 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,651 |
| essv16000626 | insertion | SAMN00014360 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,640 |
| essv16000627 | insertion | SAMN00255140 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,594 |
| essv16000628 | insertion | SAMN00800258 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,935 |
| essv16000629 | insertion | SAMN00000383 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,898 |
| essv16000630 | insertion | SAMN00001248 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,802 |
| essv16000631 | insertion | SAMN00001292 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,771 |
| essv16000632 | insertion | SAMN00001300 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,814 |
| essv16000633 | insertion | SAMN00001307 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,858 |
| essv16000634 | insertion | SAMN00001308 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,852 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16000623 | Remapped | Perfect | NC_000019.10:g.(15 630046_15630051)_( 15630045_15630050) ins? | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,630,046 (-0, +5) | 15,630,050 (-5, +0) |
| essv16000624 | Remapped | Perfect | NC_000019.10:g.(15 630046_15630051)_( 15630045_15630050) ins? | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,630,046 (-0, +5) | 15,630,050 (-5, +0) |
| essv16000625 | Remapped | Perfect | NC_000019.10:g.(15 630046_15630051)_( 15630045_15630050) ins? | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,630,046 (-0, +5) | 15,630,050 (-5, +0) |
| essv16000626 | Remapped | Perfect | NC_000019.10:g.(15 630046_15630051)_( 15630045_15630050) ins? | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,630,046 (-0, +5) | 15,630,050 (-5, +0) |
| essv16000627 | Remapped | Perfect | NC_000019.10:g.(15 630046_15630051)_( 15630045_15630050) ins? | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,630,046 (-0, +5) | 15,630,050 (-5, +0) |
| essv16000628 | Remapped | Perfect | NC_000019.10:g.(15 630046_15630051)_( 15630045_15630050) ins? | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,630,046 (-0, +5) | 15,630,050 (-5, +0) |
| essv16000629 | Remapped | Perfect | NC_000019.10:g.(15 630046_15630051)_( 15630045_15630050) ins? | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,630,046 (-0, +5) | 15,630,050 (-5, +0) |
| essv16000630 | Remapped | Perfect | NC_000019.10:g.(15 630046_15630051)_( 15630045_15630050) ins? | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,630,046 (-0, +5) | 15,630,050 (-5, +0) |
| essv16000631 | Remapped | Perfect | NC_000019.10:g.(15 630046_15630051)_( 15630045_15630050) ins? | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,630,046 (-0, +5) | 15,630,050 (-5, +0) |
| essv16000632 | Remapped | Perfect | NC_000019.10:g.(15 630046_15630051)_( 15630045_15630050) ins? | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,630,046 (-0, +5) | 15,630,050 (-5, +0) |
| essv16000633 | Remapped | Perfect | NC_000019.10:g.(15 630046_15630051)_( 15630045_15630050) ins? | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,630,046 (-0, +5) | 15,630,050 (-5, +0) |
| essv16000634 | Remapped | Perfect | NC_000019.10:g.(15 630046_15630051)_( 15630045_15630050) ins? | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 15,630,046 (-0, +5) | 15,630,050 (-5, +0) |
| essv16000623 | Submitted genomic | NC_000019.9:g.(157 40856_15740861)_(1 5740855_15740860)i ns? | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,740,856 (-0, +5) | 15,740,860 (-5, +0) | ||
| essv16000624 | Submitted genomic | NC_000019.9:g.(157 40856_15740861)_(1 5740855_15740860)i ns? | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,740,856 (-0, +5) | 15,740,860 (-5, +0) | ||
| essv16000625 | Submitted genomic | NC_000019.9:g.(157 40856_15740861)_(1 5740855_15740860)i ns? | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,740,856 (-0, +5) | 15,740,860 (-5, +0) | ||
| essv16000626 | Submitted genomic | NC_000019.9:g.(157 40856_15740861)_(1 5740855_15740860)i ns? | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,740,856 (-0, +5) | 15,740,860 (-5, +0) | ||
| essv16000627 | Submitted genomic | NC_000019.9:g.(157 40856_15740861)_(1 5740855_15740860)i ns? | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,740,856 (-0, +5) | 15,740,860 (-5, +0) | ||
| essv16000628 | Submitted genomic | NC_000019.9:g.(157 40856_15740861)_(1 5740855_15740860)i ns? | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,740,856 (-0, +5) | 15,740,860 (-5, +0) | ||
| essv16000629 | Submitted genomic | NC_000019.9:g.(157 40856_15740861)_(1 5740855_15740860)i ns? | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,740,856 (-0, +5) | 15,740,860 (-5, +0) | ||
| essv16000630 | Submitted genomic | NC_000019.9:g.(157 40856_15740861)_(1 5740855_15740860)i ns? | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,740,856 (-0, +5) | 15,740,860 (-5, +0) | ||
| essv16000631 | Submitted genomic | NC_000019.9:g.(157 40856_15740861)_(1 5740855_15740860)i ns? | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,740,856 (-0, +5) | 15,740,860 (-5, +0) | ||
| essv16000632 | Submitted genomic | NC_000019.9:g.(157 40856_15740861)_(1 5740855_15740860)i ns? | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,740,856 (-0, +5) | 15,740,860 (-5, +0) | ||
| essv16000633 | Submitted genomic | NC_000019.9:g.(157 40856_15740861)_(1 5740855_15740860)i ns? | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,740,856 (-0, +5) | 15,740,860 (-5, +0) | ||
| essv16000634 | Submitted genomic | NC_000019.9:g.(157 40856_15740861)_(1 5740855_15740860)i ns? | GRCh37 (hg19) | NC_000019.9 | Chr19 | 15,740,856 (-0, +5) | 15,740,860 (-5, +0) |