A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1270653



Internal ID5400758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:131516252..131516252hg38UCSC Ensembl
chr9:134391639..134391639hg19UCSC Ensembl
chr9:133381460..133381460hg18UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4050309
SamplesHuRef
Known GenesPOMT1
MethodSequencing
Analysis
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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