A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4143n100



Internal ID22790230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:193614792..194334683hg38UCSC Ensembl
chr2:194479516..195199407hg19UCSC Ensembl
chr2:194187761..194907652hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38719892
hg19719892
hg18719892
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010047, nsv1003089
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)dgv4143n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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