A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3444325



Internal ID15291278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29712617..29712637hg38UCSC Ensembl
Innerchr6:29712616..29712635hg38UCSC Ensembl
Outerchr6:29712596..29712655hg38UCSC Ensembl
chr6:29680394..29680414hg19UCSC Ensembl
Innerchr6:29680393..29680412hg19UCSC Ensembl
Outerchr6:29680373..29680432hg19UCSC Ensembl
chr6:29788373..29788393hg18UCSC Ensembl
Innerchr6:29788391..29788372hg18UCSC Ensembl
Outerchr6:29788352..29788411hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38119
hg19119
hg18119
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676365, essv8676363, essv8676366
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3444325
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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