A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674013



Internal ID9940118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:81971410..81974747hg38UCSC Ensembl
Outerchr3:81971253..81974900hg38UCSC Ensembl
Innerchr3:82020561..82023898hg19UCSC Ensembl
Outerchr3:82020404..82024051hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg383648
hg193648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6415806
SamplesNA18613
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674013
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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