A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009218



Internal ID6721322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:70119756..70120733hg38UCSC Ensembl
Outerchr14:70586473..70587450hg19UCSC Ensembl
Outerchr14:69656226..69657203hg18UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg383307
hg193307
hg183307
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563843
SamplesHuRef
Known GenesSLC8A3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009218
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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