esv2554756
- Organism: Homo sapiens
- Study:estd197 (McKernan 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:13,852
- Description:originalFile=Yoruban_cnv.gff
- Publication(s):McKernan 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: 155 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 155 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 43 SVs from 14 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 |
---|---|---|---|---|---|---|---|---|---|
esv2554756 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 99,584,914 | 99,598,765 |
esv2554756 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 99,182,537 | 99,196,388 |
esv2554756 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 99,020,473 | 99,034,324 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv5228298 | Remapped | Perfect | NC_000007.14:g.(?_ 99584914)_(9959876 5_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 99,584,914 | 99,598,765 |
essv5228298 | Remapped | Perfect | NC_000007.13:g.(?_ 99182537)_(9919638 8_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 99,182,537 | 99,196,388 |
essv5228298 | Submitted genomic | NC_000007.12:g.(?_ 99020473)_(9903432 4_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 99,020,473 | 99,034,324 |