A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647152



Internal ID7033893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45873937..45884358hg38UCSC Ensembl
Innerchr21:45874437..45883858hg38UCSC Ensembl
Outerchr21:45872937..45885358hg38UCSC Ensembl
chr21:47293851..47304272hg19UCSC Ensembl
Innerchr21:47294351..47303772hg19UCSC Ensembl
Outerchr21:47292851..47305272hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3810422
hg1910422
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16341185
SamplesNA18861
Known GenesPCBP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647152
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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