esv275242
- 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:13,596
- 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: 172 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 172 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 38 SVs from 17 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv275242 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 48,552,417 | 48,560,571 | 48,563,755 | 48,566,012 |
esv275242 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 48,592,013 | 48,600,167 | 48,603,351 | 48,605,608 |
esv275242 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 48,562,559 | 48,570,713 | 48,573,897 | 48,576,154 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
essv2585717 | copy number gain | SNP array | Other |
essv2586029 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
essv2585717 | Remapped | Perfect | NC_000007.14:g.(48 552417_48560571)_( 48563755_48566012) dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,552,417 | 48,560,571 | 48,563,755 | 48,566,012 |
essv2586029 | Remapped | Perfect | NC_000007.14:g.(48 552417_48560571)_( 48563755_48566012) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 48,552,417 | 48,560,571 | 48,563,755 | 48,566,012 |
essv2585717 | Remapped | Perfect | NC_000007.13:g.(48 592013_48600167)_( 48603351_48605608) dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 48,592,013 | 48,600,167 | 48,603,351 | 48,605,608 |
essv2586029 | Remapped | Perfect | NC_000007.13:g.(48 592013_48600167)_( 48603351_48605608) del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 48,592,013 | 48,600,167 | 48,603,351 | 48,605,608 |
essv2585717 | Submitted genomic | NC_000007.12:g.(48 562559_48570713)_( 48573897_48576154) dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 48,562,559 | 48,570,713 | 48,573,897 | 48,576,154 | ||
essv2586029 | Submitted genomic | NC_000007.12:g.(48 562559_48570713)_( 48573897_48576154) del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 48,562,559 | 48,570,713 | 48,573,897 | 48,576,154 |