A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8651834



Internal ID14753338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:980023..980704hg38UCSC Ensembl
Innerchr11:980023..980704hg38UCSC Ensembl
Outerchr11:978579..981564hg38UCSC Ensembl
chr11:980023..980704hg19UCSC Ensembl
Innerchr11:980023..980704hg19UCSC Ensembl
Outerchr11:978579..981564hg19UCSC Ensembl
chr11:970023..970704hg18UCSC Ensembl
Innerchr11:970023..970704hg18UCSC Ensembl
Outerchr11:968579..971564hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38682
hg19682
hg18682
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3381929
Supporting Variants
SamplesNA19240
Known GenesAP2A2
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8651834
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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