A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16341185



Internal ID5312500
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647152
Supporting Variants
SamplesNA18861
Known GenesPCBP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16341185
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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