A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4099n100



Internal ID20155715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:164771494..164882504hg38UCSC Ensembl
chr2:165628004..165739014hg19UCSC Ensembl
chr2:165336250..165447260hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38111011
hg19111011
hg18111011
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010820, nsv1010521
Samples
Known GenesCOBLL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4099n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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