A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3355817



Internal ID15202798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:54393560..54393588hg38UCSC Ensembl
Innerchr6:54393549..54393597hg38UCSC Ensembl
Outerchr6:54393521..54393627hg38UCSC Ensembl
chr6:54258358..54258386hg19UCSC Ensembl
Innerchr6:54258347..54258395hg19UCSC Ensembl
Outerchr6:54258319..54258425hg19UCSC Ensembl
chr6:54366317..54366345hg18UCSC Ensembl
Innerchr6:54366354..54366306hg18UCSC Ensembl
Outerchr6:54366278..54366384hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38110
hg19110
hg18110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8929697, essv8929699, essv8929700, essv8929706, essv8929708, essv8929695, essv8929687, essv8929696, essv8929685, essv8929692, essv8929709, essv8929682, essv8929683, essv8929698, essv8929707, essv8929693, essv8929684, essv8929690, essv8929703, essv8929681, essv8929705, essv8929704, essv8929701, essv8929688, essv8929686, essv8929694, essv8929689, essv8929711, essv8929710
SamplesNA18947, NA18861, NA18508, NA10851, NA18980, NA07346, NA18916, NA07347, NA12287, NA12044, NA12828, NA11993, NA11831, NA18951, NA18956, NA19114, NA18499, NA11894, NA18853, NA19099, NA19225, NA12144, NA18858, NA19108, NA18943, NA12749, NA18505, NA18522, NA18965
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3355817
Frequency
Sample Size185
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer