esv3641448
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:21,723
- 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: 681 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 198 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 681 SVs from 72 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3641448 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 83,017,441 | 83,039,163 |
| esv3641448 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187612.1 | Chr17|NT_1 87612.1 | 63,604 | 84,512 |
| esv3641448 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 80,975,317 | 80,997,039 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv15771175 | copy number loss | SAMN00004638 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,504 |
| essv15771176 | copy number loss | SAMN00006370 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,238 |
| essv15771177 | copy number loss | SAMN00006433 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,389 |
| essv15771178 | copy number loss | SAMN00006511 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,127 |
| essv15771179 | copy number loss | SAMN00006516 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,414 |
| essv15771180 | copy number loss | SAMN00006529 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,283 |
| essv15771181 | copy number loss | SAMN00006531 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,378 |
| essv15771182 | copy number gain | SAMN00249700 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,666 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv15771175 | Remapped | Good | NT_187612.1:g.6360 4_84512del | GRCh38.p12 | Second Pass | NT_187612.1 | Chr17|NT_1 87612.1 | 63,604 | 84,512 |
| essv15771176 | Remapped | Good | NT_187612.1:g.6360 4_84512del | GRCh38.p12 | Second Pass | NT_187612.1 | Chr17|NT_1 87612.1 | 63,604 | 84,512 |
| essv15771177 | Remapped | Good | NT_187612.1:g.6360 4_84512del | GRCh38.p12 | Second Pass | NT_187612.1 | Chr17|NT_1 87612.1 | 63,604 | 84,512 |
| essv15771178 | Remapped | Good | NT_187612.1:g.6360 4_84512del | GRCh38.p12 | Second Pass | NT_187612.1 | Chr17|NT_1 87612.1 | 63,604 | 84,512 |
| essv15771179 | Remapped | Good | NT_187612.1:g.6360 4_84512del | GRCh38.p12 | Second Pass | NT_187612.1 | Chr17|NT_1 87612.1 | 63,604 | 84,512 |
| essv15771180 | Remapped | Good | NT_187612.1:g.6360 4_84512del | GRCh38.p12 | Second Pass | NT_187612.1 | Chr17|NT_1 87612.1 | 63,604 | 84,512 |
| essv15771181 | Remapped | Good | NT_187612.1:g.6360 4_84512del | GRCh38.p12 | Second Pass | NT_187612.1 | Chr17|NT_1 87612.1 | 63,604 | 84,512 |
| essv15771182 | Remapped | Good | NT_187612.1:g.6360 4_84512dup | GRCh38.p12 | Second Pass | NT_187612.1 | Chr17|NT_1 87612.1 | 63,604 | 84,512 |
| essv15771175 | Remapped | Perfect | NC_000017.11:g.830 17441_83039163del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 83,017,441 | 83,039,163 |
| essv15771176 | Remapped | Perfect | NC_000017.11:g.830 17441_83039163del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 83,017,441 | 83,039,163 |
| essv15771177 | Remapped | Perfect | NC_000017.11:g.830 17441_83039163del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 83,017,441 | 83,039,163 |
| essv15771178 | Remapped | Perfect | NC_000017.11:g.830 17441_83039163del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 83,017,441 | 83,039,163 |
| essv15771179 | Remapped | Perfect | NC_000017.11:g.830 17441_83039163del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 83,017,441 | 83,039,163 |
| essv15771180 | Remapped | Perfect | NC_000017.11:g.830 17441_83039163del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 83,017,441 | 83,039,163 |
| essv15771181 | Remapped | Perfect | NC_000017.11:g.830 17441_83039163del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 83,017,441 | 83,039,163 |
| essv15771182 | Remapped | Perfect | NC_000017.11:g.830 17441_83039163dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 83,017,441 | 83,039,163 |
| essv15771175 | Submitted genomic | NC_000017.10:g.809 75317_80997039del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 80,975,317 | 80,997,039 | ||
| essv15771176 | Submitted genomic | NC_000017.10:g.809 75317_80997039del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 80,975,317 | 80,997,039 | ||
| essv15771177 | Submitted genomic | NC_000017.10:g.809 75317_80997039del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 80,975,317 | 80,997,039 | ||
| essv15771178 | Submitted genomic | NC_000017.10:g.809 75317_80997039del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 80,975,317 | 80,997,039 | ||
| essv15771179 | Submitted genomic | NC_000017.10:g.809 75317_80997039del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 80,975,317 | 80,997,039 | ||
| essv15771180 | Submitted genomic | NC_000017.10:g.809 75317_80997039del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 80,975,317 | 80,997,039 | ||
| essv15771181 | Submitted genomic | NC_000017.10:g.809 75317_80997039del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 80,975,317 | 80,997,039 | ||
| essv15771182 | Submitted genomic | NC_000017.10:g.809 75317_80997039dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 80,975,317 | 80,997,039 |