A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8808563



Internal ID13643138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:32585675..32585953hg38UCSC Ensembl
Innerchr11:32585674..32585954hg38UCSC Ensembl
Outerchr11:32585565..32586073hg38UCSC Ensembl
chr11:32607221..32607499hg19UCSC Ensembl
Innerchr11:32607220..32607500hg19UCSC Ensembl
Outerchr11:32607111..32607619hg19UCSC Ensembl
chr11:32563797..32564075hg18UCSC Ensembl
Innerchr11:32564076..32563796hg18UCSC Ensembl
Outerchr11:32563687..32564195hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38279
hg19279
hg18279
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3350453
Supporting Variants
SamplesNA12878
Known GenesEIF3M
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8808563
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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