A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565113



Internal ID6689809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:138396133..138401703hg38UCSC Ensembl
Outerchr5:137731822..137737392hg19UCSC Ensembl
Outerchr5:137759721..137765291hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3815504
hg1915504
hg1815504
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005958
Supporting Variants
SamplesHuRef
Known GenesKDM3B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565113
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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