A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002416



Internal ID6714550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35116755..35116755hg38UCSC Ensembl
chr19:35607659..35607659hg19UCSC Ensembl
chr19:40299499..40299499hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3571902
SamplesHuRef
Known GenesFXYD3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002416
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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