A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3429847



Internal ID15276803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130229241..130229271hg38UCSC Ensembl
Innerchr3:130229243..130229269hg38UCSC Ensembl
Outerchr3:130229239..130229273hg38UCSC Ensembl
chr3:129948084..129948114hg19UCSC Ensembl
Innerchr3:129948086..129948112hg19UCSC Ensembl
Outerchr3:129948082..129948116hg19UCSC Ensembl
chr3:131430774..131430804hg18UCSC Ensembl
Innerchr3:131430776..131430802hg18UCSC Ensembl
Outerchr3:131430772..131430806hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864186
SamplesNA12005
Known GenesCOL6A4P2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3429847
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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