A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4n31



Internal ID22767719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133620616..133782046hg38UCSC Ensembl
chr10:135434120..135519371hg19UCSC Ensembl
chr10:135284110..135369361hg18UCSC Ensembl
chr10:135323001..135408252hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38161431
hg1985252
hg1885252
hg1785252
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv471481, nsv471488
SamplesNA18507, YH, JDW
Known GenesDUX2, DUX4, DUX4L, DUX4L2, DUX4L3, DUX4L5, DUX4L6, DUX4L7, FRG2B, LOC100653046
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)dgv4n31
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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