A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3373627



Internal ID15220602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48222142..48222161hg38UCSC Ensembl
Innerchr12:48222138..48222165hg38UCSC Ensembl
Outerchr12:48222119..48222184hg38UCSC Ensembl
chr12:48615925..48615944hg19UCSC Ensembl
Innerchr12:48615921..48615948hg19UCSC Ensembl
Outerchr12:48615902..48615967hg19UCSC Ensembl
chr12:46902192..46902211hg18UCSC Ensembl
Innerchr12:46902215..46902188hg18UCSC Ensembl
Outerchr12:46902169..46902234hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8677876
SamplesNA19240
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3373627
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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