A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10309267



Internal ID311083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226224912..226234594hg38UCSC Ensembl
chr1:226412613..226422295hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg389683
hg199683
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589011
Supporting Variants
SamplesHG01811
Known GenesLIN9, MIXL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10309267
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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