A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647041



Internal ID7033783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40494725..40501821hg38UCSC Ensembl
Innerchr21:40494744..40501802hg38UCSC Ensembl
Outerchr21:40494706..40501840hg38UCSC Ensembl
chr21:41866652..41873748hg19UCSC Ensembl
Innerchr21:41866671..41873729hg19UCSC Ensembl
Outerchr21:41866633..41873767hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg387097
hg197097
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16321866
SamplesHG01846
Known GenesDSCAM
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647041
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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