A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678809



Internal ID9944914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:121089429..121098693hg38UCSC Ensembl
Outerchr2:121089392..121098743hg38UCSC Ensembl
Innerchr2:121847005..121856269hg19UCSC Ensembl
Outerchr2:121846968..121856319hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg389352
hg199352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5684836
SamplesNA19726
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678809
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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