A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666908



Internal ID9586327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111102730..111104464hg38UCSC Ensembl
Outerchr2:111102693..111104514hg38UCSC Ensembl
Innerchr2:111860307..111862041hg19UCSC Ensembl
Outerchr2:111860270..111862091hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg381822
hg191822
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5918346
SamplesNA19446
Known GenesACOXL
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666908
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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