A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11009403



Internal ID3690636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49395154..49400959hg38UCSC Ensembl
Innerchr3:49395204..49400817hg38UCSC Ensembl
Outerchr3:49395074..49401039hg38UCSC Ensembl
chr3:49432587..49438392hg19UCSC Ensembl
Innerchr3:49432637..49438250hg19UCSC Ensembl
Outerchr3:49432507..49438472hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg385806
hg195806
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596125
Supporting Variants
SamplesHG03297
Known GenesRHOA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11009403
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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