A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669216



Internal ID9935321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:23472513..23477174hg38UCSC Ensembl
chr3:23514004..23518665hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg384662
hg194662
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6069467, essv5973959, essv6382913, essv6073487, essv6324451, essv5888774, essv5701901, essv5936922, essv6577759
SamplesNA18861, NA19107, NA19374, NA19373, NA19315, NA18523, NA18858, NA19331, NA18511
Known GenesMIR548AC, UBE2E2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669216
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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