esv2647869
- 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:31,387
- 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: 303 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 303 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 187 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 80 SVs from 16 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 |
---|---|---|---|---|---|---|---|---|---|
esv2647869 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 85,508,760 | 85,540,146 |
esv2647869 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 85,974,443 | 86,005,829 |
esv2647869 | Remapped | Good | GRCh37.p13 | PATCHES | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,338,129 | 2,368,708 |
esv2647869 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 85,747,031 | 85,778,417 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv5288249 | Remapped | Perfect | NC_000001.11:g.(?_ 85508760)_(8554014 6_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 85,508,760 | 85,540,146 |
essv5288249 | Remapped | Good | NW_003871055.3:g.( ?_2338129)_(236870 8_?)dup | GRCh37.p13 | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,338,129 | 2,368,708 |
essv5288249 | Remapped | Perfect | NC_000001.10:g.(?_ 85974443)_(8600582 9_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 85,974,443 | 86,005,829 |
essv5288249 | Submitted genomic | NC_000001.9:g.(?_8 5747031)_(85778417 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 85,747,031 | 85,778,417 |