A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16331850



Internal ID1440708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44324439..44335228hg38UCSC Ensembl
chr21:45744322..45755111hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3810790
hg1910790
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647130
Supporting Variants
SamplesHG01326
Known GenesC21orf2, PFKL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16331850
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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