A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3335295



Internal ID14835568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:18263515..18263530hg38UCSC Ensembl
Innerchr6:18263489..18263556hg38UCSC Ensembl
Outerchr6:18263474..18263571hg38UCSC Ensembl
chr6:18263746..18263761hg19UCSC Ensembl
Innerchr6:18263720..18263787hg19UCSC Ensembl
Outerchr6:18263705..18263802hg19UCSC Ensembl
chr6:18371725..18371740hg18UCSC Ensembl
Innerchr6:18371766..18371699hg18UCSC Ensembl
Outerchr6:18371684..18371781hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864554
SamplesNA12005
Known GenesDEK
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3335295
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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