A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3625615



Internal ID7012449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:22369646..22454424hg38UCSC Ensembl
chr11:22391192..22475970hg19UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg3884779
hg1984779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14050108
SamplesHG01810
Known GenesSLC17A6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3625615
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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