A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10486695



Internal ID488511
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590593
Supporting Variants
SamplesHG00255
Known GenesPRKCE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10486695
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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