A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3376350



Internal ID15223323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130364217..130364255hg38UCSC Ensembl
Innerchr3:130364223..130364247hg38UCSC Ensembl
Outerchr3:130364187..130364285hg38UCSC Ensembl
chr3:130083060..130083098hg19UCSC Ensembl
Innerchr3:130083066..130083090hg19UCSC Ensembl
Outerchr3:130083030..130083128hg19UCSC Ensembl
chr3:131565750..131565788hg18UCSC Ensembl
Innerchr3:131565780..131565756hg18UCSC Ensembl
Outerchr3:131565720..131565818hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38259
hg19259
hg18259
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8915498
SamplesNA19147
Known GenesCOL6A5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3376350
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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