A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3362683



Internal ID15209661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:64751404..64753402hg38UCSC Ensembl
Innerchr11:64752402..64752404hg38UCSC Ensembl
Outerchr11:64750404..64754402hg38UCSC Ensembl
chr11:64518876..64520874hg19UCSC Ensembl
Innerchr11:64519874..64519876hg19UCSC Ensembl
Outerchr11:64517876..64521874hg19UCSC Ensembl
chr11:64275452..64277450hg18UCSC Ensembl
Innerchr11:64276452..64276450hg18UCSC Ensembl
Outerchr11:64274452..64278450hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688488
SamplesNA19239
Known GenesPYGM
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3362683
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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