esv32629
- Organism: Homo sapiens
- Study:estd24 (de Smith et al. 2007)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,859
- Publication(s):de Smith et al. 2007
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: 197 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 197 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 7 SVs from 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv32629 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 3,716,183 | 3,718,041 |
| esv32629 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 3,716,417 | 3,718,275 |
| esv32629 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 3,661,416 | 3,663,274 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv97773 | copy number loss | 22278 | Oligo aCGH | Probe signal intensity | 179 |
| essv100288 | copy number loss | 22300 | Oligo aCGH | Probe signal intensity | 163 |
| essv100115 | copy number loss | 22286 | Oligo aCGH | Probe signal intensity | 177 |
| essv93012 | copy number loss | 21863 | Oligo aCGH | Probe signal intensity | 176 |
| essv95818 | copy number loss | 21911 | Oligo aCGH | Probe signal intensity | 167 |
| essv97423 | copy number gain | 21879 | Oligo aCGH | Probe signal intensity | 170 |
| essv99681 | copy number gain | 22217 | Oligo aCGH | Probe signal intensity | 182 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv97773 | Remapped | Perfect | NC_000006.12:g.(37 14615_3716183)_(37 17595_3717851)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 3,714,615 | 3,716,183 | 3,717,595 | 3,717,851 |
| essv100288 | Remapped | Perfect | NC_000006.12:g.(37 14615_3716183)_(37 18041_3718979)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 3,714,615 | 3,716,183 | 3,718,041 | 3,718,979 |
| essv100115 | Remapped | Perfect | NC_000006.12:g.(37 16948_3717376)_(37 17595_3717851)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 3,716,948 | 3,717,376 | 3,717,595 | 3,717,851 |
| essv93012 | Remapped | Perfect | NC_000006.12:g.(37 16948_3717376)_(37 17595_3717851)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 3,716,948 | 3,717,376 | 3,717,595 | 3,717,851 |
| essv95818 | Remapped | Perfect | NC_000006.12:g.(37 16948_3717376)_(37 17595_3717851)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 3,716,948 | 3,717,376 | 3,717,595 | 3,717,851 |
| essv97423 | Remapped | Perfect | NC_000006.12:g.(37 16948_3717376)_(37 17595_3717851)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 3,716,948 | 3,717,376 | 3,717,595 | 3,717,851 |
| essv99681 | Remapped | Perfect | NC_000006.12:g.(37 16948_3717376)_(37 17851_3718041)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 3,716,948 | 3,717,376 | 3,717,851 | 3,718,041 |
| essv97773 | Remapped | Perfect | NC_000006.11:g.(37 14849_3716417)_(37 17829_3718085)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 3,714,849 | 3,716,417 | 3,717,829 | 3,718,085 |
| essv100288 | Remapped | Perfect | NC_000006.11:g.(37 14849_3716417)_(37 18275_3719213)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 3,714,849 | 3,716,417 | 3,718,275 | 3,719,213 |
| essv100115 | Remapped | Perfect | NC_000006.11:g.(37 17182_3717610)_(37 17829_3718085)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 3,717,182 | 3,717,610 | 3,717,829 | 3,718,085 |
| essv93012 | Remapped | Perfect | NC_000006.11:g.(37 17182_3717610)_(37 17829_3718085)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 3,717,182 | 3,717,610 | 3,717,829 | 3,718,085 |
| essv95818 | Remapped | Perfect | NC_000006.11:g.(37 17182_3717610)_(37 17829_3718085)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 3,717,182 | 3,717,610 | 3,717,829 | 3,718,085 |
| essv97423 | Remapped | Perfect | NC_000006.11:g.(37 17182_3717610)_(37 17829_3718085)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 3,717,182 | 3,717,610 | 3,717,829 | 3,718,085 |
| essv99681 | Remapped | Perfect | NC_000006.11:g.(37 17182_3717610)_(37 18085_3718275)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 3,717,182 | 3,717,610 | 3,718,085 | 3,718,275 |
| essv97773 | Submitted genomic | NC_000006.9:g.(365 9848_3661416)_(366 2828_3663084)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 3,659,848 | 3,661,416 | 3,662,828 | 3,663,084 | ||
| essv100288 | Submitted genomic | NC_000006.9:g.(365 9848_3661416)_(366 3274_3664212)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 3,659,848 | 3,661,416 | 3,663,274 | 3,664,212 | ||
| essv100115 | Submitted genomic | NC_000006.9:g.(366 2181_3662609)_(366 2828_3663084)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 3,662,181 | 3,662,609 | 3,662,828 | 3,663,084 | ||
| essv93012 | Submitted genomic | NC_000006.9:g.(366 2181_3662609)_(366 2828_3663084)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 3,662,181 | 3,662,609 | 3,662,828 | 3,663,084 | ||
| essv95818 | Submitted genomic | NC_000006.9:g.(366 2181_3662609)_(366 2828_3663084)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 3,662,181 | 3,662,609 | 3,662,828 | 3,663,084 | ||
| essv97423 | Submitted genomic | NC_000006.9:g.(366 2181_3662609)_(366 2828_3663084)dup | NCBI35 (hg17) | NC_000006.9 | Chr6 | 3,662,181 | 3,662,609 | 3,662,828 | 3,663,084 | ||
| essv99681 | Submitted genomic | NC_000006.9:g.(366 2181_3662609)_(366 3084_3663274)dup | NCBI35 (hg17) | NC_000006.9 | Chr6 | 3,662,181 | 3,662,609 | 3,663,084 | 3,663,274 |