A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16313598



Internal ID6315414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:33396481..33409590hg38UCSC Ensembl
chr21:34768787..34781896hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3813110
hg1913110
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646904
Supporting Variants
SamplesHG03446
Known GenesIFNGR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16313598
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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