A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3395799



Internal ID15242763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55991590..55991606hg38UCSC Ensembl
Innerchr5:55991585..55991608hg38UCSC Ensembl
Outerchr5:55991572..55991624hg38UCSC Ensembl
chr5:55287418..55287434hg19UCSC Ensembl
Innerchr5:55287413..55287436hg19UCSC Ensembl
Outerchr5:55287400..55287452hg19UCSC Ensembl
chr5:55323175..55323191hg18UCSC Ensembl
Innerchr5:55323193..55323170hg18UCSC Ensembl
Outerchr5:55323157..55323209hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38284
hg19284
hg18284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8924489, essv8924485, essv8924484, essv8924490, essv8924487, essv8924486, essv8924488, essv8924483
SamplesNA12717, NA18861, NA12287, NA19099, NA19147, NA18517, NA18505, NA18522
Known GenesIL6ST
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3395799
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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