A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10873393



Internal ID354365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229934201..229948100hg38UCSC Ensembl
Innerchr2:229934263..229948039hg38UCSC Ensembl
Outerchr2:229934140..229948162hg38UCSC Ensembl
chr2:230798917..230812816hg19UCSC Ensembl
Innerchr2:230798979..230812755hg19UCSC Ensembl
Outerchr2:230798856..230812878hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3813900
hg1913900
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594587
Supporting Variants
SamplesHG00099
Known GenesFBXO36
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10873393
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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