A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7745591



Internal ID14924756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130364223..130364224hg38UCSC Ensembl
Innerchr3:130364177..130364270hg38UCSC Ensembl
Outerchr3:130364176..130364271hg38UCSC Ensembl
chr3:130083066..130083067hg19UCSC Ensembl
Innerchr3:130083020..130083113hg19UCSC Ensembl
Outerchr3:130083019..130083114hg19UCSC Ensembl
chr3:131565756..131565757hg18UCSC Ensembl
Innerchr3:131565803..131565710hg18UCSC Ensembl
Outerchr3:131565709..131565804hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38259
hg19259
hg18259
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305478
Supporting Variants
SamplesNA19147
Known GenesCOL6A5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7745591
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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