A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3443089



Internal ID14943356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:530452..531450hg38UCSC Ensembl
Innerchr11:530451..531451hg38UCSC Ensembl
Outerchr11:529452..532450hg38UCSC Ensembl
chr11:530452..531450hg19UCSC Ensembl
Innerchr11:530451..531451hg19UCSC Ensembl
Outerchr11:529452..532450hg19UCSC Ensembl
chr11:520452..521450hg18UCSC Ensembl
Innerchr11:521451..520451hg18UCSC Ensembl
Outerchr11:519452..522450hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv542e59
Supporting Variantsessv8688436
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3443089
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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