A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3574487



Internal ID7045869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:108991548..108991548hg38UCSC Ensembl
chr13:109643896..109643896hg19UCSC Ensembl
chr13:108441897..108441897hg18UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv990061
Supporting Variants
SamplesHuRef
Known GenesMYO16
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3574487
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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