A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677391



Internal ID9943496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:131741518..131781806hg38UCSC Ensembl
Outerchr3:131741481..131781856hg38UCSC Ensembl
Innerchr3:131460362..131500650hg19UCSC Ensembl
Outerchr3:131460325..131500700hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3840376
hg1940376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6254094
SamplesHG01047
Known GenesCPNE4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677391
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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