A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3413076



Internal ID14913349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:72639760..72641258hg38UCSC Ensembl
Innerchr11:72640258..72640760hg38UCSC Ensembl
Outerchr11:72638760..72642258hg38UCSC Ensembl
chr11:72350804..72352302hg19UCSC Ensembl
Innerchr11:72351302..72351804hg19UCSC Ensembl
Outerchr11:72349804..72353302hg19UCSC Ensembl
chr11:72028452..72029950hg18UCSC Ensembl
Innerchr11:72029452..72028950hg18UCSC Ensembl
Outerchr11:72027452..72030950hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688516
SamplesNA19239
Known GenesPDE2A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3413076
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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