A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646811



Internal ID7033554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29925735..29951049hg38UCSC Ensembl
chr21:31298053..31323367hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3825315
hg1925315
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv808e214
Supporting Variantsessv16309785, essv16309786
SamplesHG01443, HG03644
Known GenesGRIK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646811
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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