A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302813



Internal ID15149761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53345536..53345667hg38UCSC Ensembl
Innerchr6:53345601..53345601hg38UCSC Ensembl
Outerchr6:53345436..53345767hg38UCSC Ensembl
chr6:53210334..53210465hg19UCSC Ensembl
Innerchr6:53210399..53210399hg19UCSC Ensembl
Outerchr6:53210234..53210565hg19UCSC Ensembl
chr6:53318293..53318424hg18UCSC Ensembl
Innerchr6:53318358..53318358hg18UCSC Ensembl
Outerchr6:53318193..53318524hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38132
hg19132
hg18132
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3514e59
Supporting Variantsessv7733428, essv7737078, essv7733710, essv7735012, essv7736414, essv7738790, essv7738603, essv7735136, essv7732866, essv7738466, essv7737946, essv7736798, essv7736586, essv7737839, essv7735102, essv7738341, essv7734600, essv7736283, essv7737653, essv7737801, essv7736703, essv7733501, essv7735881, essv7739171, essv7739035, essv7731863, essv7734517, essv7738761, essv7733157, essv7732100, essv7736961, essv7736304, essv7736721, essv7738501, essv7731743, essv7732938
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)esv3302813
Frequency
Sample Size185
Observed Gain36
Observed Loss0
Observed Complex0
Frequencyn/a


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