A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv25n31



Internal ID20133269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7430296..7545068hg38UCSC Ensembl
chr8:7287818..7402590hg19UCSC Ensembl
chr8:7275228..7390000hg18UCSC Ensembl
chr8:7275228..7390000hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38114773
hg19114773
hg18114773
hg17114773
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv471474, nsv471471, nsv471549, nsv471472, nsv471550
SamplesNA18507, YH
Known GenesDEFB103A, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, PRR23D1, PRR23D2, SPAG11B
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)dgv25n31
Frequency
Sample Size3
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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