A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1147593



Internal ID1002501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36713101..36713101hg19UCSC Ensembl
chr22:35043047..35043047hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg1953
hg1853
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4015917
SamplesHuRef
Known GenesMYH9
Method
AnalysisRegion identical to calls - DGVa curated
PlatformSanger Sequencing
Comments
ReferenceLevy et al 2007
Pubmed ID17803354
Accession Number(s)esv1147593
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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