A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1941n100



Internal ID20153557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75813178..75895015hg38UCSC Ensembl
chr14:76279521..76361358hg19UCSC Ensembl
chr14:75349274..75431111hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3881838
hg1981838
hg1881838
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1054388, nsv1039873
Samples
Known GenesBCYRN1, TTLL5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1941n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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