A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10873403



Internal ID403270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229969547..229973583hg38UCSC Ensembl
Innerchr2:229969652..229973533hg38UCSC Ensembl
Outerchr2:229969411..229973719hg38UCSC Ensembl
chr2:230834263..230838299hg19UCSC Ensembl
Innerchr2:230834368..230838249hg19UCSC Ensembl
Outerchr2:230834127..230838435hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg384037
hg194037
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594590
Supporting Variants
SamplesHG00119
Known GenesFBXO36
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10873403
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