A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662968



Internal ID9582387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:153311318..153313863hg38UCSC Ensembl
chr4:154232470..154235015hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg382546
hg192546
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6315466, essv6457274
SamplesNA19129, NA19099
Known GenesTRIM2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662968
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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