esv3559112
- Organism: Homo sapiens
- Study:estd215 (GoNL)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:59,394
- Publication(s):Boomsma et al. 2013
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: 482 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 482 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 | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
esv3559112 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 94,775,502 | 94,778,425 | 94,830,403 | 94,834,895 |
esv3559112 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 94,030,501 | 94,033,424 | 94,085,402 | 94,089,894 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
essv9757859 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv9757859 | Remapped | Perfect | NC_000023.11:g.(94 775502_94778425)_( 94830403_94834895) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 94,775,502 | 94,778,425 | 94,830,403 | 94,834,895 |
essv9757859 | Submitted genomic | NC_000023.10:g.(94 030501_94033424)_( 94085402_94089894) del54783 | GRCh37 (hg19) | NC_000023.10 | ChrX | 94,030,501 | 94,033,424 | 94,085,402 | 94,089,894 |