A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10451264



Internal ID453080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33491880..33502655hg38UCSC Ensembl
Innerchr2:33491929..33502607hg38UCSC Ensembl
Outerchr2:33491832..33502704hg38UCSC Ensembl
chr2:33716947..33727722hg19UCSC Ensembl
Innerchr2:33716996..33727674hg19UCSC Ensembl
Outerchr2:33716899..33727771hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3810776
hg1910776
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590292
Supporting Variants
SamplesNA18552
Known GenesRASGRP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10451264
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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