A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5446228



Internal ID8423631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2427648..2428008hg38UCSC Ensembl
chr3:2469332..2469692hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38361
hg19361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2670015
Supporting Variants
SamplesNA18516
Known GenesCNTN4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5446228
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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