A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3450706



Internal ID15297654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117433064..117435062hg38UCSC Ensembl
Innerchr12:117434062..117434064hg38UCSC Ensembl
Outerchr12:117432064..117436062hg38UCSC Ensembl
chr12:117870869..117872867hg19UCSC Ensembl
Innerchr12:117871867..117871869hg19UCSC Ensembl
Outerchr12:117869869..117873867hg19UCSC Ensembl
chr12:116355252..116357250hg18UCSC Ensembl
Innerchr12:116356252..116356250hg18UCSC Ensembl
Outerchr12:116354252..116358250hg18UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv922e59
Supporting Variantsessv8688562
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3450706
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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