A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695313



Internal ID15018055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49477180..49477578hg38UCSC Ensembl
Innerchr6:49477179..49477579hg38UCSC Ensembl
Outerchr6:49476180..49478578hg38UCSC Ensembl
chr6:49444893..49445291hg19UCSC Ensembl
Innerchr6:49444892..49445292hg19UCSC Ensembl
Outerchr6:49443893..49446291hg19UCSC Ensembl
chr6:49552852..49553250hg18UCSC Ensembl
Innerchr6:49553251..49552851hg18UCSC Ensembl
Outerchr6:49551852..49554250hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38399
hg19399
hg18399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3424715
Supporting Variants
SamplesNA19238
Known GenesCENPQ
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695313
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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