A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3843n100



Internal ID20155459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53463400..53557900hg38UCSC Ensembl
chr2:53690538..53785037hg19UCSC Ensembl
chr2:53544042..53638541hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3894501
hg1994500
hg1894500
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv999571, nsv1012754
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3843n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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