A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4110n100



Internal ID20155726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177685321..177712274hg38UCSC Ensembl
chr2:178550049..178577002hg19UCSC Ensembl
chr2:178258295..178285248hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3826954
hg1926954
hg1826954
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1003983, nsv1005991
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)dgv4110n100
Frequency
Sample Size29084
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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