A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3514e59



Internal ID22764734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53345533..53345667hg38UCSC Ensembl
chr6:53210331..53210465hg19UCSC Ensembl
chr6:53318290..53318424hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38135
hg19135
hg18135
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3302469, esv3302813
SamplesNA12717, NA18947, NA11995, NA18592, NA18561, NA11920, NA18603, NA07357, NA18563, NA19005, NA18944, NA12891, NA18547, NA18582, NA18949, NA12156, NA19238, NA12828, NA18973, NA10847, NA12003, NA12878, NA18948, NA18566, NA18573, NA11894, NA12892, NA18532, NA12043, NA18542, NA11881, NA19240, NA18943, NA18562, NA12776, NA18965
Known GenesELOVL5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv3514e59
Frequency
Sample Size185
Observed Gain36
Observed Loss0
Observed Complex0
Frequencyn/a


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