A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665810



Internal ID9585229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207776728..207778359hg38UCSC Ensembl
Outerchr1:207776571..207778512hg38UCSC Ensembl
Innerchr1:207950073..207951704hg19UCSC Ensembl
Outerchr1:207949916..207951857hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381942
hg191942
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5998748
SamplesNA12400
Known GenesCD46
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665810
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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