A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688521



Internal ID15012575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:87698812..87700010hg38UCSC Ensembl
Innerchr11:87699010..87699812hg38UCSC Ensembl
Outerchr11:87697812..87701010hg38UCSC Ensembl
chr11:87409704..87410902hg19UCSC Ensembl
Innerchr11:87409902..87410704hg19UCSC Ensembl
Outerchr11:87408704..87411902hg19UCSC Ensembl
chr11:87087352..87088550hg18UCSC Ensembl
Innerchr11:87088352..87087550hg18UCSC Ensembl
Outerchr11:87086352..87089550hg18UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3344243
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688521
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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