A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4066n100



Internal ID20155682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127072541..127274970hg38UCSC Ensembl
chr2:127830117..128032546hg19UCSC Ensembl
chr2:127546587..127749016hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38202430
hg19202430
hg18202430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010669, nsv999809, nsv1006112, nsv1011378
Samples
Known GenesBIN1, CYP27C1, ERCC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4066n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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