A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693841



Internal ID15039259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130236219..130236917hg38UCSC Ensembl
Innerchr3:130236218..130236918hg38UCSC Ensembl
Outerchr3:130235219..130237917hg38UCSC Ensembl
chr3:129955062..129955760hg19UCSC Ensembl
Innerchr3:129955061..129955761hg19UCSC Ensembl
Outerchr3:129954062..129956760hg19UCSC Ensembl
chr3:131437752..131438450hg18UCSC Ensembl
Innerchr3:131438451..131437751hg18UCSC Ensembl
Outerchr3:131436752..131439450hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38699
hg19699
hg18699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3361411
Supporting Variants
SamplesNA19239
Known GenesCOL6A4P2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693841
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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