A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv13n29



Internal ID20133230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7872467..8060046hg38UCSC Ensembl
chr8:7729989..7917568hg19UCSC Ensembl
chr8:7767399..7954978hg18UCSC Ensembl
chr8:7767399..7954978hg16UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38187580
hg19187580
hg18187580
hg16187580
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv469564, nsv469864
Samples
Known GenesDEFB103A, DEFB103B, DEFB109P1B, DEFB4A, FAM66E, USP17L3, USP17L8, ZNF705B
MethodBAC aCGH
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)dgv13n29
Frequency
Sample Size265
Observed Gain29
Observed Loss53
Observed Complex0
Frequencyn/a


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