A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590295



Internal ID6630582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33550167..33552336hg38UCSC Ensembl
Innerchr2:33550167..33552336hg38UCSC Ensembl
Outerchr2:33550021..33552505hg38UCSC Ensembl
chr2:33775234..33777403hg19UCSC Ensembl
Innerchr2:33775234..33777403hg19UCSC Ensembl
Outerchr2:33775088..33777572hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382170
hg192170
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10451296
SamplesHG02621
Known GenesRASGRP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590295
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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