A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590289



Internal ID6630576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33486058..33489868hg38UCSC Ensembl
Innerchr2:33486058..33489868hg38UCSC Ensembl
Outerchr2:33485915..33490049hg38UCSC Ensembl
chr2:33711125..33714935hg19UCSC Ensembl
Innerchr2:33711125..33714935hg19UCSC Ensembl
Outerchr2:33710982..33715116hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg383811
hg193811
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10451261
SamplesHG03808
Known GenesRASGRP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590289
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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