A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3431454



Internal ID15278410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113231937..113232235hg38UCSC Ensembl
Innerchr13:113231936..113232236hg38UCSC Ensembl
Outerchr13:113230937..113233235hg38UCSC Ensembl
chr13:113886251..113886549hg19UCSC Ensembl
Innerchr13:113886250..113886550hg19UCSC Ensembl
Outerchr13:113885251..113887549hg19UCSC Ensembl
chr13:112934252..112934550hg18UCSC Ensembl
Innerchr13:112934551..112934251hg18UCSC Ensembl
Outerchr13:112933252..112935550hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38299
hg19299
hg18299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688825
SamplesNA19239
Known GenesCUL4A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3431454
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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