A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3356196



Internal ID15203176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:192463253..192463253hg38UCSC Ensembl
Innerchr3:192463252..192463254hg38UCSC Ensembl
Outerchr3:192463203..192463303hg38UCSC Ensembl
chr3:192181042..192181042hg19UCSC Ensembl
Innerchr3:192181041..192181043hg19UCSC Ensembl
Outerchr3:192180992..192181092hg19UCSC Ensembl
chr3:193663736..193663736hg18UCSC Ensembl
Innerchr3:193663737..193663735hg18UCSC Ensembl
Outerchr3:193663686..193663786hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38204
hg19204
hg18204
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741091
SamplesNA19240
Known GenesFGF12
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3356196
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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