A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678731



Internal ID9944836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:17788241..17798261hg38UCSC Ensembl
chr2:17969508..17979528hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3810021
hg1910021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5462210, essv5969257
SamplesNA19920, NA19834
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678731
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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