A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1351884



Internal ID12168320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31650034..31650034hg38UCSC Ensembl
chr12:31802968..31802968hg19UCSC Ensembl
chr12:31694235..31694235hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38316
hg19316
hg18316
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3630748
SamplesHuRef
Known GenesMETTL20
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1351884
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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