A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4109n100



Internal ID20155725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177671194..177721880hg38UCSC Ensembl
chr2:178535922..178586608hg19UCSC Ensembl
chr2:178244168..178294854hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3850687
hg1950687
hg1850687
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1007925, nsv1005854
Samples
Known GenesPDE11A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4109n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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