A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3531e59



Internal ID18989032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57924215..57929613hg38UCSC Ensembl
chr6:58250493..58255891hg19UCSC Ensembl
chr6:58358452..58363850hg18UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg385399
hg195399
hg185399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3390942, esv3442886
SamplesNA12892, NA12878
Known GenesGUSBP4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3531e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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