A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994931



Internal ID6730881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:21478985..21488208hg38UCSC Ensembl
Outerchr14:21947144..21956367hg19UCSC Ensembl
Outerchr14:21016984..21026207hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg389224
hg199224
hg189224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564987
SamplesHuRef
Known GenesTOX4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994931
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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