A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3337328



Internal ID15184315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132535593..132536991hg38UCSC Ensembl
Innerchr12:132535991..132536593hg38UCSC Ensembl
Outerchr12:132534593..132537991hg38UCSC Ensembl
chr12:133112179..133113577hg19UCSC Ensembl
Innerchr12:133112577..133113179hg19UCSC Ensembl
Outerchr12:133111179..133114577hg19UCSC Ensembl
chr12:131622252..131623650hg18UCSC Ensembl
Innerchr12:131623252..131622650hg18UCSC Ensembl
Outerchr12:131621252..131624650hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv948e59
Supporting Variantsessv8688639
SamplesNA19239
Known GenesFBRSL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3337328
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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