A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4238105



Internal ID11520643
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1516102
Supporting Variants
SamplesHuRef
Known GenesRNF13
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4238105
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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