esv2756879
- Organism: Homo sapiens
- Study:estd1 (Redon et al. 2006)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:129,294
- Publication(s):Redon et al. 2006
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: 460 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 460 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 14 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2756879 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 195,922,112 | 196,051,405 |
| esv2756879 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 195,891,242 | 196,020,535 |
| esv2756879 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 192,622,899 | 192,752,192 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv3604 | copy number gain | NA18969 | SNP array | SNP genotyping analysis | 96 |
| essv25108 | copy number loss | NA12814 | SNP array | SNP genotyping analysis | 131 |
| essv18802 | copy number loss | NA12248 | SNP array | SNP genotyping analysis | 109 |
| essv21362 | copy number loss | NA10860 | SNP array | SNP genotyping analysis | 97 |
| essv6058 | copy number loss | NA18603 | SNP array | SNP genotyping analysis | 110 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv3604 | Remapped | Perfect | NC_000001.11:g.(19 5922112_195930689) _(196044881_196051 405)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 195,922,112 | 195,930,689 | 196,044,881 | 196,051,405 |
| essv25108 | Remapped | Perfect | NC_000001.11:g.(19 5968572_195969196) _(195971379_195972 897)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 195,968,572 | 195,969,196 | 195,971,379 | 195,972,897 |
| essv18802 | Remapped | Perfect | NC_000001.11:g.(19 5970699_195970699) _(195972190_195972 897)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 195,970,699 | 195,970,699 | 195,972,190 | 195,972,897 |
| essv21362 | Remapped | Perfect | NC_000001.11:g.(19 5970699_195970699) _(195972190_195972 190)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 195,970,699 | 195,970,699 | 195,972,190 | 195,972,190 |
| essv6058 | Remapped | Perfect | NC_000001.11:g.(19 5970699_195970699) _(195972190_195972 190)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 195,970,699 | 195,970,699 | 195,972,190 | 195,972,190 |
| essv3604 | Remapped | Perfect | NC_000001.10:g.(19 5891242_195899819) _(196014011_196020 535)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 195,891,242 | 195,899,819 | 196,014,011 | 196,020,535 |
| essv25108 | Remapped | Perfect | NC_000001.10:g.(19 5937702_195938326) _(195940509_195942 027)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 195,937,702 | 195,938,326 | 195,940,509 | 195,942,027 |
| essv18802 | Remapped | Perfect | NC_000001.10:g.(19 5939829_195939829) _(195941320_195942 027)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 195,939,829 | 195,939,829 | 195,941,320 | 195,942,027 |
| essv21362 | Remapped | Perfect | NC_000001.10:g.(19 5939829_195939829) _(195941320_195941 320)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 195,939,829 | 195,939,829 | 195,941,320 | 195,941,320 |
| essv6058 | Remapped | Perfect | NC_000001.10:g.(19 5939829_195939829) _(195941320_195941 320)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 195,939,829 | 195,939,829 | 195,941,320 | 195,941,320 |
| essv3604 | Submitted genomic | NC_000001.8:g.(192 622899_192631476)_ (192745668_1927521 92)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 192,622,899 | 192,631,476 | 192,745,668 | 192,752,192 | ||
| essv25108 | Submitted genomic | NC_000001.8:g.(192 669359_192669983)_ (192672166_1926736 84)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 192,669,359 | 192,669,983 | 192,672,166 | 192,673,684 | ||
| essv18802 | Submitted genomic | NC_000001.8:g.(192 671486_192671486)_ (192672977_1926736 84)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 192,671,486 | 192,671,486 | 192,672,977 | 192,673,684 | ||
| essv21362 | Submitted genomic | NC_000001.8:g.(192 671486_192671486)_ (192672977_1926729 77)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 192,671,486 | 192,671,486 | 192,672,977 | 192,672,977 | ||
| essv6058 | Submitted genomic | NC_000001.8:g.(192 671486_192671486)_ (192672977_1926729 77)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 192,671,486 | 192,671,486 | 192,672,977 | 192,672,977 |