esv3603751
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:16,014
- 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: 910 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 910 SVs from 80 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3603751 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 486,664 | 502,677 |
esv3603751 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 486,779 | 502,792 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv11767878 | copy number loss | SAMN00006516 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,414 |
essv11767879 | copy number loss | SAMN00006529 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,283 |
essv11767880 | copy number loss | SAMN00000470 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,578 |
essv11767881 | copy number loss | SAMN00004480 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,996 |
essv11767882 | copy number gain | SAMN00249896 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,742 |
essv11767883 | copy number gain | SAMN00249830 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,668 |
essv11767884 | copy number gain | SAMN01761302 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,284 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv11767878 | Remapped | Perfect | NC_000005.10:g.486 664_502677del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 486,664 | 502,677 |
essv11767879 | Remapped | Perfect | NC_000005.10:g.486 664_502677del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 486,664 | 502,677 |
essv11767880 | Remapped | Perfect | NC_000005.10:g.486 664_502677del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 486,664 | 502,677 |
essv11767881 | Remapped | Perfect | NC_000005.10:g.486 664_502677del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 486,664 | 502,677 |
essv11767882 | Remapped | Perfect | NC_000005.10:g.486 664_502677dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 486,664 | 502,677 |
essv11767883 | Remapped | Perfect | NC_000005.10:g.486 664_502677dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 486,664 | 502,677 |
essv11767884 | Remapped | Perfect | NC_000005.10:g.486 664_502677dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 486,664 | 502,677 |
essv11767878 | Submitted genomic | NC_000005.9:g.4867 79_502792del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 486,779 | 502,792 | ||
essv11767879 | Submitted genomic | NC_000005.9:g.4867 79_502792del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 486,779 | 502,792 | ||
essv11767880 | Submitted genomic | NC_000005.9:g.4867 79_502792del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 486,779 | 502,792 | ||
essv11767881 | Submitted genomic | NC_000005.9:g.4867 79_502792del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 486,779 | 502,792 | ||
essv11767882 | Submitted genomic | NC_000005.9:g.4867 79_502792dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 486,779 | 502,792 | ||
essv11767883 | Submitted genomic | NC_000005.9:g.4867 79_502792dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 486,779 | 502,792 | ||
essv11767884 | Submitted genomic | NC_000005.9:g.4867 79_502792dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 486,779 | 502,792 |