A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1516102



Internal ID12679224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149875900..149875900hg38UCSC Ensembl
chr3:149593687..149593687hg19UCSC Ensembl
chr3:151076377..151076377hg18UCSC 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 Variantsessv4238105
SamplesHuRef
Known GenesRNF13
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1516102
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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