esv3901746
- Organism: Homo sapiens
- Study:estd225 (Magnusson et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:56,438
- Publication(s):Magnusson et al. 2016
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: 2562 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 2562 SVs from 95 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3901746 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,263,213 | 78,319,650 |
esv3901746 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 78,972,930 | 79,029,367 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Copy number |
---|---|---|---|---|
essv25820876 | copy number loss | SNP array | SNP genotyping analysis | 0 |
essv25820877 | copy number loss | SNP array | SNP genotyping analysis | 0 |
essv25820879 | copy number loss | SNP array | SNP genotyping analysis | 0 |
essv25820881 | copy number loss | SNP array | SNP genotyping analysis | 0 |
essv25820882 | copy number gain | SNP array | SNP genotyping analysis | 3 |
essv25820883 | copy number loss | SNP array | SNP genotyping analysis | 0 |
essv25820884 | copy number loss | SNP array | SNP genotyping analysis | 0 |
essv25820885 | copy number gain | SNP array | SNP genotyping analysis | 3 |
essv25820886 | copy number loss | SNP array | SNP genotyping analysis | 0 |
essv25820887 | copy number loss | SNP array | SNP genotyping analysis | 0 |
essv25820888 | copy number loss | SNP array | SNP genotyping analysis | 0 |
essv25820889 | copy number loss | SNP array | SNP genotyping analysis | 0 |
essv25820890 | copy number gain | SNP array | SNP genotyping analysis | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv25820876 | Remapped | Perfect | NC_000006.12:g.782 63213_78319650del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,213 | 78,319,650 |
essv25820877 | Remapped | Perfect | NC_000006.12:g.782 63213_78319650del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,213 | 78,319,650 |
essv25820879 | Remapped | Perfect | NC_000006.12:g.782 63213_78319650del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,213 | 78,319,650 |
essv25820881 | Remapped | Perfect | NC_000006.12:g.782 63213_78319650del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,213 | 78,319,650 |
essv25820882 | Remapped | Perfect | NC_000006.12:g.782 63213_78319650dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,213 | 78,319,650 |
essv25820883 | Remapped | Perfect | NC_000006.12:g.782 63213_78319650del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,213 | 78,319,650 |
essv25820884 | Remapped | Perfect | NC_000006.12:g.782 63213_78319650del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,213 | 78,319,650 |
essv25820885 | Remapped | Perfect | NC_000006.12:g.782 63213_78319650dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,213 | 78,319,650 |
essv25820886 | Remapped | Perfect | NC_000006.12:g.782 63213_78319650del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,213 | 78,319,650 |
essv25820887 | Remapped | Perfect | NC_000006.12:g.782 63213_78319650del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,213 | 78,319,650 |
essv25820888 | Remapped | Perfect | NC_000006.12:g.782 63213_78319650del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,213 | 78,319,650 |
essv25820889 | Remapped | Perfect | NC_000006.12:g.782 63213_78319650del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,213 | 78,319,650 |
essv25820890 | Remapped | Perfect | NC_000006.12:g.782 63213_78319650dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,213 | 78,319,650 |
essv25820876 | Submitted genomic | NC_000006.11:g.789 72930_79029367del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,972,930 | 79,029,367 | ||
essv25820877 | Submitted genomic | NC_000006.11:g.789 72930_79029367del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,972,930 | 79,029,367 | ||
essv25820879 | Submitted genomic | NC_000006.11:g.789 72930_79029367del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,972,930 | 79,029,367 | ||
essv25820881 | Submitted genomic | NC_000006.11:g.789 72930_79029367del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,972,930 | 79,029,367 | ||
essv25820882 | Submitted genomic | NC_000006.11:g.789 72930_79029367dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,972,930 | 79,029,367 | ||
essv25820883 | Submitted genomic | NC_000006.11:g.789 72930_79029367del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,972,930 | 79,029,367 | ||
essv25820884 | Submitted genomic | NC_000006.11:g.789 72930_79029367del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,972,930 | 79,029,367 | ||
essv25820885 | Submitted genomic | NC_000006.11:g.789 72930_79029367dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,972,930 | 79,029,367 | ||
essv25820886 | Submitted genomic | NC_000006.11:g.789 72930_79029367del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,972,930 | 79,029,367 | ||
essv25820887 | Submitted genomic | NC_000006.11:g.789 72930_79029367del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,972,930 | 79,029,367 | ||
essv25820888 | Submitted genomic | NC_000006.11:g.789 72930_79029367del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,972,930 | 79,029,367 | ||
essv25820889 | Submitted genomic | NC_000006.11:g.789 72930_79029367del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,972,930 | 79,029,367 | ||
essv25820890 | Submitted genomic | NC_000006.11:g.789 72930_79029367dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,972,930 | 79,029,367 |