A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590288



Internal ID6630575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33468668..33471453hg38UCSC Ensembl
Innerchr2:33468673..33471449hg38UCSC Ensembl
Outerchr2:33468664..33471458hg38UCSC Ensembl
chr2:33693735..33696520hg19UCSC Ensembl
Innerchr2:33693740..33696516hg19UCSC Ensembl
Outerchr2:33693731..33696525hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382786
hg192786
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10451259, essv10451260, essv10451258
SamplesNA19072, HG00239, HG01673
Known GenesRASGRP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590288
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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