A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16325148



Internal ID1551430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43072203..43086339hg38UCSC Ensembl
Innerchr21:43072253..43086289hg38UCSC Ensembl
Outerchr21:43072093..43086449hg38UCSC Ensembl
chr21:44492313..44506449hg19UCSC Ensembl
Innerchr21:44492363..44506399hg19UCSC Ensembl
Outerchr21:44492203..44506559hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3814137
hg1914137
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647098
Supporting Variants
SamplesHG01435
Known GenesCBS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16325148
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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