A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663506



Internal ID9929611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:189735377..189814229hg38UCSC Ensembl
Innerchr1:189704507..189783359hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3878853
hg1978853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5556373, essv5818203
SamplesNA12878, NA12892
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663506
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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