esv2599144
- 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:2,571
- 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: 1707 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1787 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 987 SVs from 32 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 |
---|---|---|---|---|---|---|---|---|---|
esv2599144 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 19,932,563 | 19,935,133 |
esv2599144 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 20,400,722 | 20,403,292 |
esv2599144 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 19,470,562 | 19,473,132 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv5323389 | Remapped | Perfect | NC_000014.9:g.(?_1 9932563)_(19935133 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,932,563 | 19,935,133 |
essv5323389 | Remapped | Perfect | NC_000014.8:g.(?_2 0400722)_(20403292 _?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 20,400,722 | 20,403,292 |
essv5323389 | Submitted genomic | NC_000014.7:g.(?_1 9470562)_(19473132 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 19,470,562 | 19,473,132 |