A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422459



Internal ID7906556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:21463465..21701280hg38UCSC Ensembl
Innerchr14:21931624..22169502hg19UCSC Ensembl
Innerchr14:21001464..21239342hg18UCSC Ensembl
Innerchr14:21001464..21239342hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38237816
hg19237879
hg18237879
hg17237879
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161519
SamplesND03401
Known GenesMETTL3, OR10G2, OR10G3, OR4E2, RAB2B, SALL2, TOX4
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422459
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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