A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3387485



Internal ID14887768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46609704..46609704hg38UCSC Ensembl
Innerchr11:46609703..46609705hg38UCSC Ensembl
Outerchr11:46609654..46609754hg38UCSC Ensembl
chr11:46631254..46631254hg19UCSC Ensembl
Innerchr11:46631253..46631255hg19UCSC Ensembl
Outerchr11:46631204..46631304hg19UCSC Ensembl
chr11:46587830..46587830hg18UCSC Ensembl
Innerchr11:46587831..46587829hg18UCSC Ensembl
Outerchr11:46587780..46587880hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381270
hg191270
hg181270
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740726
SamplesNA19240
Known GenesHARBI1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3387485
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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