A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590596



Internal ID6630882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45924712..45925510hg38UCSC Ensembl
Innerchr2:45924739..45925484hg38UCSC Ensembl
Outerchr2:45924686..45925537hg38UCSC Ensembl
chr2:46151851..46152649hg19UCSC Ensembl
Innerchr2:46151878..46152623hg19UCSC Ensembl
Outerchr2:46151825..46152676hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38799
hg19799
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10486775, essv10486776
SamplesHG01840, HG02839
Known GenesPRKCE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590596
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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