A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007306



Internal ID6719419
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563822
SamplesHuRef
Known GenesKDM3B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007306
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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