A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1367232



Internal ID12530354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109868011..109868011hg38UCSC Ensembl
chr12:110305816..110305816hg19UCSC Ensembl
chr12:108790199..108790199hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38232
hg19232
hg18232
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4069647
SamplesHuRef
Known GenesGLTP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1367232
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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