A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671167



Internal ID9590586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47894944..47901073hg38UCSC Ensembl
Outerchr2:47894787..47901226hg38UCSC Ensembl
Innerchr2:48122083..48128212hg19UCSC Ensembl
Outerchr2:48121926..48128365hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg386440
hg196440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5536182
SamplesHG00421
Known GenesFBXO11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671167
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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