A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865478



Internal ID12971164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46867442..46867466hg38UCSC Ensembl
Innerchr11:46867444..46867464hg38UCSC Ensembl
Outerchr11:46867440..46867468hg38UCSC Ensembl
chr11:46888993..46889017hg19UCSC Ensembl
Innerchr11:46888995..46889015hg19UCSC Ensembl
Outerchr11:46888991..46889019hg19UCSC Ensembl
chr11:46845569..46845593hg18UCSC Ensembl
Innerchr11:46845571..46845591hg18UCSC Ensembl
Outerchr11:46845567..46845595hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3418464
Supporting Variants
SamplesNA12005
Known GenesLRP4, LRP4-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865478
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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