A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4158n100



Internal ID22790245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207475081..207495060hg38UCSC Ensembl
chr2:208339805..208359784hg19UCSC Ensembl
chr2:208048050..208068029hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3819980
hg1919980
hg1819980
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1005887, nsv1005501, nsv1010496
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)dgv4158n100
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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