A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590593



Internal ID6630879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45746452..45751708hg38UCSC Ensembl
Innerchr2:45746452..45751708hg38UCSC Ensembl
Outerchr2:45745952..45752208hg38UCSC Ensembl
chr2:45973591..45978847hg19UCSC Ensembl
Innerchr2:45973591..45978847hg19UCSC Ensembl
Outerchr2:45973091..45979347hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg385257
hg195257
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10486695
SamplesHG00255
Known GenesPRKCE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590593
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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