esv275237
- Organism: Homo sapiens
- Study:estd176 (Banerjee et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:16,138
- Publication(s):Banerjee et al. 2011
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: 115 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 41 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv275237 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 32,477,136 | 32,478,088 | 32,489,931 | 32,493,273 |
| esv275237 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 32,766,064 | 32,767,016 | 32,778,859 | 32,782,201 |
| esv275237 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 32,806,070 | 32,807,022 | 32,818,865 | 32,822,207 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv2585708 | copy number gain | SNP array | Other |
| essv2586036 | copy number loss | SNP array | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv2585708 | Remapped | Perfect | NC_000010.11:g.(32 477136_32478088)_( 32489931_32493273) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 32,477,136 | 32,478,088 | 32,489,931 | 32,493,273 |
| essv2586036 | Remapped | Perfect | NC_000010.11:g.(32 477136_32478088)_( 32489931_32493273) del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 32,477,136 | 32,478,088 | 32,489,931 | 32,493,273 |
| essv2585708 | Remapped | Perfect | NC_000010.10:g.(32 766064_32767016)_( 32778859_32782201) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 32,766,064 | 32,767,016 | 32,778,859 | 32,782,201 |
| essv2586036 | Remapped | Perfect | NC_000010.10:g.(32 766064_32767016)_( 32778859_32782201) del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 32,766,064 | 32,767,016 | 32,778,859 | 32,782,201 |
| essv2585708 | Submitted genomic | NC_000010.9:g.(328 06070_32807022)_(3 2818865_32822207)d up | NCBI36 (hg18) | NC_000010.9 | Chr10 | 32,806,070 | 32,807,022 | 32,818,865 | 32,822,207 | ||
| essv2586036 | Submitted genomic | NC_000010.9:g.(328 06070_32807022)_(3 2818865_32822207)d el | NCBI36 (hg18) | NC_000010.9 | Chr10 | 32,806,070 | 32,807,022 | 32,818,865 | 32,822,207 |