A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659132



Internal ID9925237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45000326..45001231hg38UCSC Ensembl
Outerchr2:45000289..45001281hg38UCSC Ensembl
Innerchr2:45227465..45228370hg19UCSC Ensembl
Outerchr2:45227428..45228420hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38993
hg19993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6078378
SamplesNA18548
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659132
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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