A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1341540



Internal ID1590765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47256636..47256636hg19UCSC Ensembl
chr19:51948476..51948476hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg19250
hg18250
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4239186
SamplesHuRef
Known GenesFKRP
Method
AnalysisRegion identical to calls - DGVa curated
PlatformSanger Sequencing
Comments
ReferenceLevy et al 2007
Pubmed ID17803354
Accession Number(s)esv1341540
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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