A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993688



Internal ID7062600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149875899..149875899hg38UCSC Ensembl
chr3:149593686..149593686hg19UCSC Ensembl
chr3:151076376..151076376hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38106
hg19106
hg18106
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3584654
SamplesHuRef
Known GenesRNF13
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993688
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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