A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6093344



Internal ID9447369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216055504..216058724hg38UCSC Ensembl
chr2:216920227..216923447hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg383221
hg193221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658029
Supporting Variants
SamplesNA18867
Known GenesPECR
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6093344
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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