A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002305



Internal ID7067421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:61321003..61322017hg38UCSC Ensembl
Innerchr14:61787721..61788735hg19UCSC Ensembl
Innerchr14:60857474..60858488hg18UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg381015
hg191015
hg181015
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586916
SamplesHuRef
Known GenesPRKCH
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002305
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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