A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1315871



Internal ID12478993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:643120..643120hg38UCSC Ensembl
chr19:643120..643120hg19UCSC Ensembl
chr19:594120..594120hg18UCSC Ensembl
Cytoband19p13.3
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 Variantsessv4133638
SamplesHuRef
Known GenesFGF22
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1315871
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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