A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647038



Internal ID7033780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40400553..40422114hg38UCSC Ensembl
chr21:41772480..41794041hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3821562
hg1921562
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16321850, essv16321849
SamplesHG00177, HG00378
Known GenesDSCAM
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647038
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer