A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422441



Internal ID8253224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:45379647..45856481hg38UCSC Ensembl
Innerchr14:45848850..46325684hg19UCSC Ensembl
Innerchr14:44918600..45395434hg18UCSC Ensembl
Innerchr14:44918600..45395434hg17UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38476835
hg19476835
hg18476835
hg17476835
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161349
SamplesND03123
Known Genes
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422441
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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