A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627312



Internal ID6667460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:94167559..94177004hg38UCSC Ensembl
chr11:93900725..93910170hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg389446
hg199446
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14241789, essv14241790
SamplesHG04006, HG01110
Known GenesPANX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627312
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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