A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2861124



Internal ID10534104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:138401030..138409845hg38UCSC Ensembl
Outerchr5:137736719..137745534hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg388816
hg198816
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7130691
SamplesHuRef
Known GenesKDM3B
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv2861124
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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