A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3826264



Internal ID11588921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1574383..1574383hg38UCSC Ensembl
chr12:1683549..1683549hg19UCSC Ensembl
chr12:1553810..1553810hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38326
hg19326
hg18326
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1766777
Supporting Variants
SamplesHuRef
Known GenesFBXL14
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3826264
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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