A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16324842



Internal ID6326658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42715439..42719677hg38UCSC Ensembl
Innerchr21:42715441..42719676hg38UCSC Ensembl
Outerchr21:42715438..42719679hg38UCSC Ensembl
chr21:44135549..44139787hg19UCSC Ensembl
Innerchr21:44135551..44139786hg19UCSC Ensembl
Outerchr21:44135548..44139789hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384239
hg194239
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647089
Supporting Variants
SamplesHG00130
Known GenesPDE9A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16324842
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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