A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688188



Internal ID15041175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125154746..125156244hg38UCSC Ensembl
Innerchr11:125155244..125155746hg38UCSC Ensembl
Outerchr11:125153746..125157244hg38UCSC Ensembl
chr11:125024642..125026140hg19UCSC Ensembl
Innerchr11:125025140..125025642hg19UCSC Ensembl
Outerchr11:125023642..125027140hg19UCSC Ensembl
chr11:124529852..124531350hg18UCSC Ensembl
Innerchr11:124530852..124530350hg18UCSC Ensembl
Outerchr11:124528852..124532350hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3425542
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688188
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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