A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1041177



Internal ID1235052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:67558635..67558635hg19UCSC Ensembl
chr5:67594391..67594391hg18UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg1962
hg1862
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4104114
SamplesHuRef
Known GenesPIK3R1
Method
AnalysisRegion identical to calls - DGVa curated
PlatformSanger Sequencing
Comments
ReferenceLevy et al 2007
Pubmed ID17803354
Accession Number(s)esv1041177
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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