A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3341217



Internal ID14841487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196246884..196248082hg38UCSC Ensembl
Innerchr3:196247082..196247884hg38UCSC Ensembl
Outerchr3:196245884..196249082hg38UCSC Ensembl
chr3:195973755..195974953hg19UCSC Ensembl
Innerchr3:195973953..195974755hg19UCSC Ensembl
Outerchr3:195972755..195975953hg19UCSC Ensembl
chr3:197458152..197459350hg18UCSC Ensembl
Innerchr3:197459152..197458350hg18UCSC Ensembl
Outerchr3:197457152..197460350hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693995
SamplesNA19239
Known GenesPCYT1A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3341217
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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