A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003783



Internal ID7068888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:30053508..30058263hg38UCSC Ensembl
Outerchr14:30522714..30527469hg19UCSC Ensembl
Outerchr14:29592465..29597220hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg382352
hg192352
hg182352
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565045
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003783
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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