A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16321784



Internal ID6805962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40193330..40196884hg38UCSC Ensembl
Innerchr21:40193330..40196884hg38UCSC Ensembl
Outerchr21:40193135..40197068hg38UCSC Ensembl
chr21:41565257..41568811hg19UCSC Ensembl
Innerchr21:41565257..41568811hg19UCSC Ensembl
Outerchr21:41565062..41568995hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg383555
hg193555
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647032
Supporting Variants
SamplesNA20892
Known GenesDSCAM
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16321784
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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