A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5n31



Internal ID22767720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:5762195..5788075hg38UCSC Ensembl
chr11:5783425..5809305hg19UCSC Ensembl
chr11:5740001..5765881hg18UCSC Ensembl
chr11:5740001..5765881hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3825881
hg1925881
hg1825881
hg1725881
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv471531, nsv471529
SamplesNA18507, JDW
Known GenesOR52N1, OR52N5
MethodSequencing
AnalysisWe constructed duplication maps for each of the three genomes and estimated the absolute copy number of each duplication interval larger than 20 kb in length. We considered a given segment to be duplicated within an individual if the median estimated copy number for that individual was >2.5.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
Comments
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)dgv5n31
Frequency
Sample Size3
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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