A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3445362



Internal ID15292314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:374620..375321hg38UCSC Ensembl
Innerchr11:374620..375321hg38UCSC Ensembl
Outerchr11:373431..375933hg38UCSC Ensembl
chr11:374620..375321hg19UCSC Ensembl
Innerchr11:374620..375321hg19UCSC Ensembl
Outerchr11:373431..375933hg19UCSC Ensembl
chr11:364620..365321hg18UCSC Ensembl
Innerchr11:364620..365321hg18UCSC Ensembl
Outerchr11:363431..365933hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38702
hg19702
hg18702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651815
SamplesNA19240
Known GenesB4GALNT4
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3445362
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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