A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999811



Internal ID7082419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:151415819..151432747hg38UCSC Ensembl
Outerchr3:151133607..151150535hg19UCSC Ensembl
Outerchr3:152616297..152633225hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3810589
hg1910589
hg1810589
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564292
SamplesHuRef
Known GenesMED12L
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999811
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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