A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1751376



Internal ID5881476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:131515808..131515808hg38UCSC Ensembl
chr9:134391195..134391195hg19UCSC Ensembl
chr9:133381016..133381016hg18UCSC 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 Variantsessv3992014
SamplesHuRef
Known GenesPOMT1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1751376
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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