A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3425930



Internal ID15272887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61202404..61246402hg38UCSC Ensembl
Innerchr11:61203404..61245402hg38UCSC Ensembl
Outerchr11:61201404..61247402hg38UCSC Ensembl
chr11:60969876..61013874hg19UCSC Ensembl
Innerchr11:60970876..61012874hg19UCSC Ensembl
Outerchr11:60968876..61014874hg19UCSC Ensembl
chr11:60726452..60770450hg18UCSC Ensembl
Innerchr11:60727452..60769450hg18UCSC Ensembl
Outerchr11:60725452..60771450hg18UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3843999
hg1943999
hg1843999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688465
SamplesNA19239
Known GenesPGA3, PGA4, PGA5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3425930
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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