esv6168
- Organism: Homo sapiens
- Study:estd19 (Ahn et al. 2009)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:219
- Publication(s):Ahn et al. 2009
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: 87 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 87 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 22 SVs from 9 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv6168 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 36,921,006 | 36,921,068 | 36,921,168 | 36,921,224 |
esv6168 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 36,960,611 | 36,960,673 | 36,960,773 | 36,960,829 |
esv6168 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 36,927,136 | 36,927,198 | 36,927,298 | 36,927,354 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
essv28609 | copy number gain | Sequencing | Read depth and paired-end mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv28609 | Remapped | Perfect | NC_000007.14:g.(36 921006_36921068)_( 36921168_36921224) dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 36,921,006 | 36,921,068 | 36,921,168 | 36,921,224 |
essv28609 | Remapped | Perfect | NC_000007.13:g.(36 960611_36960673)_( 36960773_36960829) dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 36,960,611 | 36,960,673 | 36,960,773 | 36,960,829 |
essv28609 | Submitted genomic | NC_000007.12:g.(36 927136_36927198)_( 36927298_36927354) dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 36,927,136 | 36,927,198 | 36,927,298 | 36,927,354 |