A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3395175



Internal ID14895453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:72670182..72670240hg38UCSC Ensembl
Innerchr11:72670180..72670239hg38UCSC Ensembl
Outerchr11:72670122..72670297hg38UCSC Ensembl
chr11:72381226..72381284hg19UCSC Ensembl
Innerchr11:72381224..72381283hg19UCSC Ensembl
Outerchr11:72381166..72381341hg19UCSC Ensembl
chr11:72058874..72058932hg18UCSC Ensembl
Innerchr11:72058931..72058872hg18UCSC Ensembl
Outerchr11:72058814..72058989hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38232
hg19232
hg18232
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8953527, essv8953525, essv8953528, essv8953524
SamplesNA18501, NA19108, NA18508, NA18498
Known GenesPDE2A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3395175
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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