A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3586124



Internal ID6710820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:138401314..138409524hg38UCSC Ensembl
Innerchr5:137737003..137745213hg19UCSC Ensembl
Innerchr5:137764902..137773112hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg388211
hg198211
hg188211
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv997516
Supporting Variants
SamplesHuRef
Known GenesKDM3B
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3586124
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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