A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3379583



Internal ID14879855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132267593..132268391hg38UCSC Ensembl
Innerchr12:132267592..132268392hg38UCSC Ensembl
Outerchr12:132266593..132269391hg38UCSC Ensembl
chr12:132844179..132844977hg19UCSC Ensembl
Innerchr12:132844178..132844978hg19UCSC Ensembl
Outerchr12:132843179..132845977hg19UCSC Ensembl
chr12:131354252..131355050hg18UCSC Ensembl
Innerchr12:131355051..131354251hg18UCSC Ensembl
Outerchr12:131353252..131356050hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688632
SamplesNA19239
Known GenesGALNT9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3379583
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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