A curated catalogue of human genomic structural variation

Variant Details

Variant: esv34181

Internal ID12625058
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48009377..48416682hg38UCSC Ensembl
Innerchr19:48512634..48919939hg19UCSC Ensembl
Innerchr19:53204446..53611751hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990698
Known GenesC19orf68, CABP5, CARD8, CCDC114, ELSPBP1, EMP3, GRIN2D, KDELR1, LIG1, LOC100505812, PLA2G4C, SYNGR4, TMEM143, ZNF114
MethodSNP array
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.
PlatformNot reported
Pubmed ID18971310
Accession Number(s)esv34181
Sample Size270
Observed Gain0
Observed Loss0
Observed Complex0

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