A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1248194



Internal ID1548618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49001946..49002105hg19UCSC Ensembl
chr13:47899947..47900106hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg19160
hg18160
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3791908
SamplesHuRef
Known GenesLPAR6, RB1
Method
AnalysisRegion identical to calls - DGVa curated
PlatformSanger Sequencing
Comments
ReferenceLevy et al 2007
Pubmed ID17803354
Accession Number(s)esv1248194
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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