A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1473323



Internal ID12289759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88127099..88127099hg38UCSC Ensembl
chr12:88520876..88520876hg19UCSC Ensembl
chr12:87045007..87045007hg18UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3869
hg1969
hg1869
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3746571
SamplesHuRef
Known GenesCEP290
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1473323
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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