A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8651815



Internal ID15099867
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 StatusS
Merged Variantsesv3445362
Supporting Variants
SamplesNA19240
Known GenesB4GALNT4
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8651815
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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