A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3447497



Internal ID15294446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110180031..110180065hg38UCSC Ensembl
Innerchr12:110180030..110180066hg38UCSC Ensembl
Outerchr12:110179981..110180115hg38UCSC Ensembl
chr12:110617836..110617870hg19UCSC Ensembl
Innerchr12:110617835..110617871hg19UCSC Ensembl
Outerchr12:110617786..110617920hg19UCSC Ensembl
chr12:109102219..109102253hg18UCSC Ensembl
Innerchr12:109102254..109102218hg18UCSC Ensembl
Outerchr12:109102169..109102303hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38215
hg19215
hg18215
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740744
SamplesNA19240
Known GenesIFT81
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3447497
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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