A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2911272



Internal ID10584252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132320628..132320628hg38UCSC Ensembl
chr12:132897214..132897214hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7180839
SamplesHuRef
Known GenesGALNT9
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv2911272
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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