A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675680



Internal ID9941785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:102860118..102862549hg38UCSC Ensembl
chr4:103781275..103783706hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg382432
hg192432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6545131, essv5866248, essv5570809, essv6372637, essv5778603, essv5447409, essv5656500, essv5681190, essv5871875, essv5689593
SamplesHG00127, NA20798, NA20795, NA19782, HG00185, NA12043, NA20530, HG00259, NA12830, NA11843
Known GenesUBE2D3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675680
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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