A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3584654



Internal ID7056037
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 StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv993688
Supporting Variants
SamplesHuRef
Known GenesRNF13
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3584654
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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