{
  "generated_at": "2026-07-31T19:55:54.687Z",
  "purpose": "Independent WGS-derived Phase 3 SV concordance check for the 150 exome-source sample IDs used by LGASieve.",
  "source_vcf_url": "https://ftp.1000genomes.ebi.ac.uk/vol1/ftp/phase3/integrated_sv_map/ALL.wgs.mergedSV.v8.20130502.svs.genotypes.vcf.gz",
  "source_index_url": "https://ftp.1000genomes.ebi.ac.uk/vol1/ftp/phase3/integrated_sv_map/ALL.wgs.mergedSV.v8.20130502.svs.genotypes.vcf.gz.tbi",
  "reference_build": "GRCh37",
  "requested_sample_count": 150,
  "vcf_sample_count": 2504,
  "matched_sample_count": 150,
  "missing_sample_count": 0,
  "missing_samples": [],
  "genes": [
    {
      "gene": "BRCA1",
      "chrom": "17",
      "start": 41196312,
      "end": 41277387
    },
    {
      "gene": "BRCA2",
      "chrom": "13",
      "start": 32889611,
      "end": 32973347
    }
  ],
  "overlapping_del_dup_cnv_record_count": 1,
  "records_with_at_least_one_carrier_in_150": 0,
  "sample_event_pairs": 0,
  "events": [
    {
      "gene": "BRCA1",
      "chrom": "17",
      "pos": 41221932,
      "end": 41227605,
      "id": "SI_BD_15305",
      "svtype": "DEL",
      "alt": "<CN0>",
      "filter": "PASS",
      "allele_frequency": "0.00019968",
      "all_vcf_carrier_count": 1,
      "all_vcf_carriers": [
        {
          "sample_id": "NA18949",
          "gt": "0|1",
          "cn": null
        }
      ],
      "cohort_carrier_count": 0,
      "carriers": []
    }
  ],
  "interpretation_note": "This is an independent WGS callset comparison, not a complete exon-level clinical truth set. Absence from this VCF must not be counted as a confirmed negative."
}