A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660501



Internal ID9579920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2278751..2279205hg38UCSC Ensembl
chr3:2320435..2320889hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38455
hg19455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6123766, essv5954696, essv5486796, essv5902978, essv5396076, essv5775517, essv6437759, essv6204070, essv5505841, essv5536429, essv5921013, essv5721048, essv6065332, essv6267299, essv5820597, essv6304812
SamplesNA19190, NA18519, NA19916, NA19383, NA19235, NA18867, NA19462, NA18499, NA19453, NA18523, NA19321, NA19434, NA19428, NA19312, NA19429, NA19346
Known GenesCNTN4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660501
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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