A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563822



Internal ID6688205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:138406631..138417552hg38UCSC Ensembl
Outerchr5:137742320..137753241hg19UCSC Ensembl
Outerchr5:137770219..137781140hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3820488
hg1920488
hg1820488
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1007306
Supporting Variants
SamplesHuRef
Known GenesKDM3B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563822
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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