A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632048



Internal ID7018858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49466691..49470309hg38UCSC Ensembl
Innerchr13:49466723..49470277hg38UCSC Ensembl
Outerchr13:49466659..49470341hg38UCSC Ensembl
chr13:50040827..50044445hg19UCSC Ensembl
Innerchr13:50040859..50044413hg19UCSC Ensembl
Outerchr13:50040795..50044477hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg383619
hg193619
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14722882
SamplesHG01847
Known GenesSETDB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632048
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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