A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676889



Internal ID2909976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:89819122..89820396hg38UCSC Ensembl
Outerchr4:89819085..89820446hg38UCSC Ensembl
Innerchr4:90740273..90741547hg19UCSC Ensembl
Outerchr4:90740236..90741597hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg381362
hg191362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6352925
SamplesNA12154
Known GenesSNCA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676889
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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