A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670940



Internal ID9937045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224473802..224474599hg38UCSC Ensembl
chr1:224661504..224662301hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38798
hg19798
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5941344, essv6447907, essv6572606, essv6056611
SamplesNA19058, NA18960, NA18990, NA19064
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670940
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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