A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11030290



Internal ID4872956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:65455386..65468786hg38UCSC Ensembl
Innerchr3:65455886..65468286hg38UCSC Ensembl
Outerchr3:65454386..65469786hg38UCSC Ensembl
chr3:65441061..65454461hg19UCSC Ensembl
Innerchr3:65441561..65453961hg19UCSC Ensembl
Outerchr3:65440061..65455461hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3813401
hg1913401
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596419
Supporting Variants
SamplesNA12342
Known GenesMAGI1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11030290
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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