A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34181



Internal ID1684742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48512634..48919939hg19UCSC Ensembl
chr19:53204446..53611751hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variants
Samples
Known GenesCABP5, CARD8, CCDC114, ELSPBP1, EMP3, GRIN2D, KDELR1, LIG1, LOC100505812, PLA2G4C, SYNGR4, TMEM143, ZNF114
Method
AnalysisWe further explored the discovery of segmental deletions in the Kosraean population data where IBD is more prevalent, and we observe a larger number of gaps.We used a binomial score to rank potential deletions in homozygous gaps based on the number of mismatching SNPs and the rate of mismatch in the flanking shared segments, measured across all shared segments with the suspected gap. To prioritize the segmental gaps that were most likely to be representative of a deletion, we developed a scoring function based on the number of mismatching SNPs and levels of homozygosity in the gap.
Platform[Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array
Comments
ReferenceGusev et al 2009
Pubmed ID18971310
Accession Number(s)esv34181
Frequency
Sample Size270
Observed Gainn/a
Observed Lossn/a
Observed Complexn/a
Frequencyn/a


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