A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3449539



Internal ID15296487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47340320..47340366hg38UCSC Ensembl
Innerchr12:47340320..47340364hg38UCSC Ensembl
Outerchr12:47340276..47340410hg38UCSC Ensembl
chr12:47734103..47734149hg19UCSC Ensembl
Innerchr12:47734103..47734147hg19UCSC Ensembl
Outerchr12:47734059..47734193hg19UCSC Ensembl
chr12:46020370..46020416hg18UCSC Ensembl
Innerchr12:46020414..46020370hg18UCSC Ensembl
Outerchr12:46020326..46020460hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38139
hg19139
hg18139
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8672373
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3449539
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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