A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590599



Internal ID6630885
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10487661, essv10487662, essv10487660
SamplesNA20508, NA19393, NA20513
Known GenesPRKCE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590599
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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