Manual validation results of structural variants for Hemker et al. 2026
Abstract
This data shows the results of manual validation of random structural variants taken from the VCFs associated with this same study.Description: This file contains all of the manual validation results across each of the read-length distributions. Each distribution and variant size has its own sheet.VariablesCHROM - chromosome first breakpoint is located onSTART1 - start coordinate of first breakpointEND1 - end coordinate of first breakpoint (+1 to START1)CHROM2 - chromosome second breakpoint is located onSTART2 - start coordinate of second breakpointEND2 - end coordinate of second breakpoint (+1 to START2)ID - VCF ID of variantSVTYPE - type of structural variantSVLEN - length of variantSUPP_VEC - presence or absence in each strain. From left to right in vector is [dmel11, dmel12, dmel19, dmel21, dmel22, dmel31, dmel37, dmel55]ACTUAL_POS - How many strains actually had the variantCALLED_POS - How many strains did the automated callers say the variant was inACTUAL_NEG - How many strains actually did not have the variantCALLED_NEG - How many strains did the automated callers say the variant was not inTRUE_POSITIVE - Is this variant a true positive call? Does ACTUAL_POS == CALLED_POS and does ACTUAL_NEG == CALLED_NEG.ERROR_TYPE - If this variant call is a false positive call then what is the error?
Fields of Study & Subjects
Genomic variations and chromosomal abnormalities
Genomics and Phylogenetic Studies
Genomics and Rare Diseases
Publication details
- Journal / source
- Figshare
- Publication date
- 3 March 2026
- Language
- EN
- Document type
- Dataset