A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1221367



Internal ID12037804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:197196..197196hg38UCSC Ensembl
chr12:306362..306362hg19UCSC Ensembl
chr12:176623..176623hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38328
hg19328
hg18328
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4034185
SamplesHuRef
Known GenesSLC6A12
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1221367
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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