A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv149n27



Internal ID18991159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:55641188..55679951hg38UCSC Ensembl
chr11:55408664..55447427hg19UCSC Ensembl
chr11:55165240..55204003hg18UCSC Ensembl
chr11:55165240..55204003hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3838764
hg1938764
hg1838764
hg1738764
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv468562, nsv468560
Samples1780854159_A, 1780862416_A
Known GenesOR4C6, 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)dgv149n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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