A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv14n31



Internal ID20133258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46482319..46565978hg38UCSC Ensembl
chr17:44559685..44643344hg19UCSC Ensembl
chr17:41915001..41998660hg18UCSC Ensembl
chr17:41915001..41998660hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3883660
hg1983660
hg1883660
hg1783660
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv471503, nsv471508
SamplesNA18507, JDW, YH
Known GenesARL17A, ARL17B, LRRC37A2
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)dgv14n31
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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