A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3420892



Internal ID15267850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:148619283..148619283hg38UCSC Ensembl
Innerchr6:148619282..148619284hg38UCSC Ensembl
Outerchr6:148619223..148619333hg38UCSC Ensembl
chr6:148940419..148940419hg19UCSC Ensembl
Innerchr6:148940418..148940420hg19UCSC Ensembl
Outerchr6:148940359..148940469hg19UCSC Ensembl
chr6:148982112..148982112hg18UCSC Ensembl
Innerchr6:148982113..148982111hg18UCSC Ensembl
Outerchr6:148982052..148982162hg18UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8837637
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3420892
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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