A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688504



Internal ID15012425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70025098..70027096hg38UCSC Ensembl
Innerchr11:70026096..70026098hg38UCSC Ensembl
Outerchr11:70024098..70028096hg38UCSC Ensembl
chr11:69871204..69873202hg19UCSC Ensembl
Innerchr11:69872202..69872204hg19UCSC Ensembl
Outerchr11:69870204..69874202hg19UCSC Ensembl
chr11:69548852..69550850hg18UCSC Ensembl
Innerchr11:69549852..69549850hg18UCSC Ensembl
Outerchr11:69547852..69551850hg18UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3431821
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688504
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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