A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688485



Internal ID14697485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:6449546..6450544hg38UCSC Ensembl
Innerchr11:6449545..6450545hg38UCSC Ensembl
Outerchr11:6448546..6451544hg38UCSC Ensembl
chr11:6470776..6471774hg19UCSC Ensembl
Innerchr11:6470775..6471775hg19UCSC Ensembl
Outerchr11:6469776..6472774hg19UCSC Ensembl
chr11:6427352..6428350hg18UCSC Ensembl
Innerchr11:6428351..6427351hg18UCSC Ensembl
Outerchr11:6426352..6429350hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3382906
Supporting Variants
SamplesNA19239
Known GenesTRIM3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688485
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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