A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8676366



Internal ID15053099
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 Flag1
Merged StatusS
Merged Variantsesv3444325
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8676366
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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