A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3962890



Internal ID11798982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132556696..132556696hg38UCSC Ensembl
chr12:133133282..133133282hg19UCSC Ensembl
chr12:131643355..131643355hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1661784
Supporting Variants
SamplesHuRef
Known GenesFBRSL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3962890
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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