A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1031279



Internal ID12194404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8086067..8086067hg38UCSC Ensembl
chr19:8150951..8150951hg19UCSC Ensembl
chr19:8056951..8056951hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38130
hg19130
hg18130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4096826
SamplesHuRef
Known GenesFBN3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1031279
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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