A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv146n27



Internal ID20132404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:55592737..55722901hg38UCSC Ensembl
chr11:55360213..55490377hg19UCSC Ensembl
chr11:55116789..55246953hg18UCSC Ensembl
chr11:55116789..55246953hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38130165
hg19130165
hg18130165
hg17130165
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv467900, nsv468555
SamplesHGDP01003, HGDP01296
Known GenesOR4C11, 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)dgv146n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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