A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3579421



Internal ID7050803
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 StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv990334
Supporting Variants
SamplesHuRef
Known GenesFGF22
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3579421
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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