A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10487660



Internal ID489476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46026846..46031264hg38UCSC Ensembl
Innerchr2:46026867..46031244hg38UCSC Ensembl
Outerchr2:46026826..46031285hg38UCSC Ensembl
chr2:46253985..46258403hg19UCSC Ensembl
Innerchr2:46254006..46258383hg19UCSC Ensembl
Outerchr2:46253965..46258424hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg384419
hg194419
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590599
Supporting Variants
SamplesNA19393
Known GenesPRKCE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10487660
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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