A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668153



Internal ID9587572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:146055970..149045295hg38UCSC Ensembl
chr1:144839149..145379033hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg382989326
hg19539885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv66e199
Supporting Variantsessv5530926
SamplesNA19914
Known GenesLOC100288142, LOC101929780, NBPF10, NBPF9, NOTCH2NL, PDE4DIP, SEC22B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668153
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