A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676456



Internal ID9942561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:203306148..203310096hg38UCSC Ensembl
Outerchr2:203306111..203310146hg38UCSC Ensembl
Innerchr2:204170871..204174819hg19UCSC Ensembl
Outerchr2:204170834..204174869hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg384036
hg194036
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5691441
SamplesNA19190
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676456
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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