esv3817727
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:17,337
- 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: 489 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 490 SVs from 30 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3817727 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 12,448,404 (-8, +9) | 12,465,740 (-8, +9) |
esv3817727 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 12,466,523 (-8, +9) | 12,483,859 (-8, +9) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv16915946 | deletion | SAMN00016971 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,465 |
essv16915947 | deletion | SAMN00009103 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,711 |
essv16915948 | deletion | SAMN00006412 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,016 |
essv16915949 | deletion | SAMN00014324 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,048 |
essv16915950 | deletion | SAMN01761348 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,263 |
essv16915951 | deletion | SAMN00001117 | Sequencing | Read depth and paired-end mapping | Heterozygous | 4,071 |
essv16915952 | deletion | SAMN00001226 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,613 |
essv16915953 | deletion | SAMN00001249 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,557 |
essv16915954 | deletion | SAMN00001252 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,317 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv16915946 | Remapped | Perfect | NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 12,448,404 (-8, +9) | 12,465,740 (-8, +9) |
essv16915947 | Remapped | Perfect | NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 12,448,404 (-8, +9) | 12,465,740 (-8, +9) |
essv16915948 | Remapped | Perfect | NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 12,448,404 (-8, +9) | 12,465,740 (-8, +9) |
essv16915949 | Remapped | Perfect | NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 12,448,404 (-8, +9) | 12,465,740 (-8, +9) |
essv16915950 | Remapped | Perfect | NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 12,448,404 (-8, +9) | 12,465,740 (-8, +9) |
essv16915951 | Remapped | Perfect | NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 12,448,404 (-8, +9) | 12,465,740 (-8, +9) |
essv16915952 | Remapped | Perfect | NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 12,448,404 (-8, +9) | 12,465,740 (-8, +9) |
essv16915953 | Remapped | Perfect | NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 12,448,404 (-8, +9) | 12,465,740 (-8, +9) |
essv16915954 | Remapped | Perfect | NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 12,448,404 (-8, +9) | 12,465,740 (-8, +9) |
essv16915946 | Submitted genomic | NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 12,466,523 (-8, +9) | 12,483,859 (-8, +9) | ||
essv16915947 | Submitted genomic | NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 12,466,523 (-8, +9) | 12,483,859 (-8, +9) | ||
essv16915948 | Submitted genomic | NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 12,466,523 (-8, +9) | 12,483,859 (-8, +9) | ||
essv16915949 | Submitted genomic | NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 12,466,523 (-8, +9) | 12,483,859 (-8, +9) | ||
essv16915950 | Submitted genomic | NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 12,466,523 (-8, +9) | 12,483,859 (-8, +9) | ||
essv16915951 | Submitted genomic | NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 12,466,523 (-8, +9) | 12,483,859 (-8, +9) | ||
essv16915952 | Submitted genomic | NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 12,466,523 (-8, +9) | 12,483,859 (-8, +9) | ||
essv16915953 | Submitted genomic | NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 12,466,523 (-8, +9) | 12,483,859 (-8, +9) | ||
essv16915954 | Submitted genomic | NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 12,466,523 (-8, +9) | 12,483,859 (-8, +9) |