A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8808564



Internal ID13643133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:36309347..36309931hg38UCSC Ensembl
Innerchr11:36309346..36309932hg38UCSC Ensembl
Outerchr11:36309237..36310051hg38UCSC Ensembl
chr11:36330897..36331481hg19UCSC Ensembl
Innerchr11:36330896..36331482hg19UCSC Ensembl
Outerchr11:36330787..36331601hg19UCSC Ensembl
chr11:36287473..36288057hg18UCSC Ensembl
Innerchr11:36288058..36287472hg18UCSC Ensembl
Outerchr11:36287363..36288177hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38585
hg19585
hg18585
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3421257
Supporting Variants
SamplesNA12878
Known GenesPRR5L
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8808564
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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