A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3353248



Internal ID15200229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112624537..112626135hg38UCSC Ensembl
Innerchr13:112625135..112625537hg38UCSC Ensembl
Outerchr13:112623537..112627135hg38UCSC Ensembl
chr13:113278851..113280449hg19UCSC Ensembl
Innerchr13:113279449..113279851hg19UCSC Ensembl
Outerchr13:113277851..113281449hg19UCSC Ensembl
chr13:112326852..112328450hg18UCSC Ensembl
Innerchr13:112327852..112327450hg18UCSC Ensembl
Outerchr13:112325852..112329450hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688803
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3353248
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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