A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674666



Internal ID9594085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:65065921..65070021hg38UCSC Ensembl
Outerchr2:65065884..65070071hg38UCSC Ensembl
Innerchr2:65293055..65297155hg19UCSC Ensembl
Outerchr2:65293018..65297205hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg384188
hg194188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5655497
SamplesNA12842
Known GenesCEP68
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674666
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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