A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3626190



Internal ID6666339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46588803..46594854hg38UCSC Ensembl
chr11:46610353..46616404hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg386052
hg196052
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14118996, essv14118997, essv14118998
SamplesNA19067, NA20291, NA20826
Known GenesAMBRA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3626190
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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