A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990334



Internal ID7061460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:643103..643103hg38UCSC Ensembl
chr19:643103..643103hg19UCSC Ensembl
chr19:594103..594103hg18UCSC 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 Variantsessv3579421
SamplesHuRef
Known GenesFGF22
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990334
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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