A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666413



Internal ID9932518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168318753..168320914hg38UCSC Ensembl
chr1:168287991..168290152hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg382162
hg192162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5436076, essv5924473, essv5717086, essv6594522, essv6327251, essv6250540, essv6082468, essv5663890
SamplesNA19700, NA19909, NA11995, NA20512, NA19382, NA19651, NA19235, NA19380
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666413
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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