A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv143n27



Internal ID20132401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:55572353..55679951hg38UCSC Ensembl
chr11:55339829..55447427hg19UCSC Ensembl
chr11:55096405..55204003hg18UCSC Ensembl
chr11:55096405..55204003hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38107599
hg19107599
hg18107599
hg17107599
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv467887, nsv467888
SamplesHGDP00106, 1780862071_A
Known GenesOR4C11, OR4C16, OR4C6, OR4P4, OR4S2
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)dgv143n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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