A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3367018



Internal ID15213994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:11238940..11241438hg38UCSC Ensembl
Innerchr5:11239940..11240438hg38UCSC Ensembl
Outerchr5:11237940..11242438hg38UCSC Ensembl
chr5:11239052..11241550hg19UCSC Ensembl
Innerchr5:11240052..11240550hg19UCSC Ensembl
Outerchr5:11238052..11242550hg19UCSC Ensembl
chr5:11292052..11294550hg18UCSC Ensembl
Innerchr5:11293052..11293550hg18UCSC Ensembl
Outerchr5:11291052..11295550hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg382499
hg192499
hg182499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694555
SamplesNA19240
Known GenesCTNND2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3367018
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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