A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10872642



Internal ID874458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229347352..229417034hg38UCSC Ensembl
chr2:230212068..230281750hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3869683
hg1969683
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594572
Supporting Variants
SamplesHG03160
Known GenesDNER
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10872642
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer