A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3421948



Internal ID15268906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:192275230..192275249hg38UCSC Ensembl
Innerchr3:192275226..192275253hg38UCSC Ensembl
Outerchr3:192275207..192275272hg38UCSC Ensembl
chr3:191993019..191993038hg19UCSC Ensembl
Innerchr3:191993015..191993042hg19UCSC Ensembl
Outerchr3:191992996..191993061hg19UCSC Ensembl
chr3:193475713..193475732hg18UCSC Ensembl
Innerchr3:193475736..193475709hg18UCSC Ensembl
Outerchr3:193475690..193475755hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9613935
SamplesNA11918
Known GenesFGF12
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3421948
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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