A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8651827



Internal ID14753266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:72600989..72601245hg38UCSC Ensembl
Innerchr11:72600989..72601245hg38UCSC Ensembl
Outerchr11:72599666..72602160hg38UCSC Ensembl
chr11:72312033..72312289hg19UCSC Ensembl
Innerchr11:72312033..72312289hg19UCSC Ensembl
Outerchr11:72310710..72313204hg19UCSC Ensembl
chr11:71989681..71989937hg18UCSC Ensembl
Innerchr11:71989681..71989937hg18UCSC Ensembl
Outerchr11:71988358..71990852hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38257
hg19257
hg18257
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3401549
Supporting Variants
SamplesNA19240
Known GenesPDE2A
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8651827
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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