esv2598362
- 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:15,556
- 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: 1780 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 1222 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 1780 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 1151 SVs from 26 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 |
---|---|---|---|---|---|---|---|---|---|
esv2598362 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 1,523,482 | 1,539,037 |
esv2598362 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187529.1 | Chr2|NT_18 7529.1 | 205,853 | 221,408 |
esv2598362 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 1,527,254 | 1,542,809 |
esv2598362 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 1,506,261 | 1,521,816 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv5286956 | Remapped | Perfect | NT_187529.1:g.(?_2 05853)_(221408_?)d el | GRCh38.p12 | Second Pass | NT_187529.1 | Chr2|NT_18 7529.1 | 205,853 | 221,408 |
essv5286956 | Remapped | Perfect | NC_000002.12:g.(?_ 1523482)_(1539037_ ?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 1,523,482 | 1,539,037 |
essv5286956 | Remapped | Perfect | NC_000002.11:g.(?_ 1527254)_(1542809_ ?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 1,527,254 | 1,542,809 |
essv5286956 | Submitted genomic | NC_000002.10:g.(?_ 1506261)_(1521816_ ?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 1,506,261 | 1,521,816 |