A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3410389



Internal ID14910663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126226047..126226545hg38UCSC Ensembl
Innerchr11:126226046..126226546hg38UCSC Ensembl
Outerchr11:126225047..126227545hg38UCSC Ensembl
chr11:126095942..126096440hg19UCSC Ensembl
Innerchr11:126095941..126096441hg19UCSC Ensembl
Outerchr11:126094942..126097440hg19UCSC Ensembl
chr11:125601152..125601650hg18UCSC Ensembl
Innerchr11:125601651..125601151hg18UCSC Ensembl
Outerchr11:125600152..125602650hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38499
hg19499
hg18499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv715e59
Supporting Variantsessv8688195
SamplesNA19240
Known GenesFAM118B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3410389
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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