A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647133



Internal ID6687188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44658816..44659383hg38UCSC Ensembl
Innerchr21:44658866..44659333hg38UCSC Ensembl
Outerchr21:44658766..44659433hg38UCSC Ensembl
chr21:46078733..46079300hg19UCSC Ensembl
Innerchr21:46078783..46079250hg19UCSC Ensembl
Outerchr21:46078683..46079350hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38568
hg19568
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16334139, essv16334140, essv16334141
SamplesNA20541, NA20520, NA20803
Known GenesTSPEAR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647133
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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