A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1270653



Internal ID1084588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:134391639..134391639hg19UCSC Ensembl
chr9:133381460..133381460hg18UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg1951
hg1851
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4050309
SamplesHuRef
Known GenesPOMT1
Method
AnalysisRegion identical to calls - DGVa curated
PlatformSanger Sequencing
Comments
ReferenceLevy et al 2007
Pubmed ID17803354
Accession Number(s)esv1270653
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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