A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675675



Internal ID9941780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:56431206..56471318hg38UCSC Ensembl
Outerchr2:56431169..56471368hg38UCSC Ensembl
Innerchr2:56658341..56698453hg19UCSC Ensembl
Outerchr2:56658304..56698503hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3840200
hg1940200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5963619
SamplesHG00542
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675675
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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