A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671696



Internal ID9937801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84262879..84267672hg38UCSC Ensembl
chr2:84490003..84494796hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg384794
hg194794
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6272299, essv5649820
SamplesNA19382, NA19380
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671696
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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