A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv147n27



Internal ID20132405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:55603545..55650706hg38UCSC Ensembl
chr11:55371021..55418182hg19UCSC Ensembl
chr11:55127597..55174758hg18UCSC Ensembl
chr11:55127597..55174758hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3847162
hg1947162
hg1847162
hg1747162
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv468556, nsv467901
Samples1780854257_A, 1780854557_A
Known GenesOR4C11, OR4P4
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)dgv147n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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