A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4081n100



Internal ID20155697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131956759..132601004hg38UCSC Ensembl
chr2:132714332..133358577hg19UCSC Ensembl
chr2:132430802..133075047hg18UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38644246
hg19644246
hg18644246
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv999341, nsv1009861, nsv999965
Samples
Known GenesANKRD30BL, GPR39, MIR663B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4081n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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