A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1147593



Internal ID5277698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36317056..36317056hg38UCSC Ensembl
chr22:36713101..36713101hg19UCSC Ensembl
chr22:35043047..35043047hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4015917
SamplesHuRef
Known GenesMYH9
MethodSequencing
Analysis
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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