A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3384312



Internal ID14884592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48490715..48492113hg38UCSC Ensembl
Innerchr13:48491113..48491715hg38UCSC Ensembl
Outerchr13:48489715..48493113hg38UCSC Ensembl
chr13:49064851..49066249hg19UCSC Ensembl
Innerchr13:49065249..49065851hg19UCSC Ensembl
Outerchr13:49063851..49067249hg19UCSC Ensembl
chr13:47962852..47964250hg18UCSC Ensembl
Innerchr13:47963852..47963250hg18UCSC Ensembl
Outerchr13:47961852..47965250hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688971
SamplesNA19239
Known GenesRCBTB2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3384312
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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