A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1527792



Internal ID12344228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121747302..121747302hg38UCSC Ensembl
chr12:122185208..122185208hg19UCSC Ensembl
chr12:120669591..120669591hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38122
hg19122
hg18122
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3996121
SamplesHuRef
Known GenesTMEM120B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1527792
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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