A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29982



Internal ID12954862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154845877..154910068hg38UCSC Ensembl
Innerchr1:154818353..154882544hg19UCSC Ensembl
Innerchr1:153084977..153149168hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3864192
hg1964192
hg1864192
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv84221
SamplesHuRef
Known GenesKCNN3
MethodMerging
AnalysisNo Reference, merging experiment
PlatformNot Reported
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv29982
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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