A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677034



Internal ID9943139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:47482746..47491574hg38UCSC Ensembl
Outerchr3:47482589..47491727hg38UCSC Ensembl
Innerchr3:47524236..47533064hg19UCSC Ensembl
Outerchr3:47524079..47533217hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg389139
hg199139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv861e199
Supporting Variantsessv5734981
SamplesNA19346
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677034
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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