A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695027



Internal ID15089464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11490333..11492331hg38UCSC Ensembl
Innerchr6:11491331..11491333hg38UCSC Ensembl
Outerchr6:11489333..11493331hg38UCSC Ensembl
chr6:11490566..11492564hg19UCSC Ensembl
Innerchr6:11491564..11491566hg19UCSC Ensembl
Outerchr6:11489566..11493564hg19UCSC Ensembl
chr6:11598552..11600550hg18UCSC Ensembl
Innerchr6:11599552..11599550hg18UCSC Ensembl
Outerchr6:11597552..11601550hg18UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3396914
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695027
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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