A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2e49



Internal ID22760944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:24781123..25069228hg38UCSC Ensembl
chr11:24802669..25090774hg19UCSC Ensembl
chr11:24759245..25047350hg18UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg38288106
hg19288106
hg18288106
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34111, esv34012
Samples
Known GenesLUZP2
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
Comments
ReferenceGusev_et_al_2009
Pubmed ID18971310
Accession Number(s)dgv2e49
Frequency
Sample Size270
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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