18q21.1 population region (DGV_Gold_Standard_June_2021_gssvG17872)

  • 0
    Haplo
    Score
  • 40
    Triplo
    Score

Region Facts

Region Name
18q21.1 population region (DGV_Gold_Standard_June_2021_gssvG17872)
Cytoband
18q21.1
Genomic Coordinates
GRCh37/hg19 chr18:44542290-44558084 NCBI Ensembl UCSC
GRCh38/hg38 chr18:46962327-46978121 NCBI Ensembl UCSC

Dosage Sensitivity Summary (Region)

Dosage ID:
ISCA-46712
Curation Status:
Complete
Issue Type:
Dosage Curation - Region
Description:
GESV=gssvG17872 GENES=ELOA3, ELOA3B, ELOA3D VARIANT TYPE=Gain AF=24.18% ORIGIN=DGV gold dataset (June 11, 2021) NUMBER OF UNIQUE SAMPLES=2068 STUDIES=Ju2010,Sudmant2013,Conrad2009,Campbell2011 PLATFORMS=Illumina_GA,NimbleGen42M,AgilentCustom180K_v2.1+v3.0,Illumina_HiSeq
Breakpoint Type:
Variable
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
Dosage Sensitivity Unlikely (40)
gnomAD Allele Frequency:
24.18%
Last Evaluated:
08/04/2021

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)

Triplosensitivity (TS) Score Details

TS Score:
40
TS Evidence Strength:
Dosage Sensitivity Unlikely (Disclaimer)
TS Evidence Comments:
As part of an effort to identify genomic regions that are unlikely to be dosage sensitive, ClinGen queried the Database of Genomic Variants (DGV) gold standard GRCh37 data set (PMID: 24174537) (downloaded June 2021) for variants meeting the following criteria: passed DGV quality filters, characterized as either a deletion or duplication, >1 kb in size, includes at least one gene, and present at an allele frequency of >5% (with at least 2000 alleles tested). This region corresponds to a variant identified as meeting those criteria in DGV gold standard GRCh37; the DGV gold standard GRCh37 identifier for this variant is reflected in the title for reference. As of July 1st, 2021, there has been no reported relationship between the gene(s) included in this region and human disease. Given the high population frequency, this region has been classified as “dosage sensitivity unlikely”.

Genomic View

Select assembly: (NC_000018.9) (NC_000018.10)