A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3418306



Internal ID15265264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125154946..125156444hg38UCSC Ensembl
Innerchr11:125155444..125155946hg38UCSC Ensembl
Outerchr11:125153946..125157444hg38UCSC Ensembl
chr11:125024842..125026340hg19UCSC Ensembl
Innerchr11:125025340..125025842hg19UCSC Ensembl
Outerchr11:125023842..125027340hg19UCSC Ensembl
chr11:124530052..124531550hg18UCSC Ensembl
Innerchr11:124531052..124530550hg18UCSC Ensembl
Outerchr11:124529052..124532550hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv714e59
Supporting Variantsessv8688190
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3418306
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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