A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3383084



Internal ID15230055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25803151..25804549hg38UCSC Ensembl
Innerchr12:25803549..25804151hg38UCSC Ensembl
Outerchr12:25802151..25805549hg38UCSC Ensembl
chr12:25956085..25957483hg19UCSC Ensembl
Innerchr12:25956483..25957085hg19UCSC Ensembl
Outerchr12:25955085..25958483hg19UCSC Ensembl
chr12:25847352..25848750hg18UCSC Ensembl
Innerchr12:25848352..25847750hg18UCSC Ensembl
Outerchr12:25846352..25849750hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688666
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3383084
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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