A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11283699



Internal ID2302667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194171074..194174732hg38UCSC Ensembl
Innerchr3:194171074..194174732hg38UCSC Ensembl
Outerchr3:194170838..194175009hg38UCSC Ensembl
chr3:193888863..193892521hg19UCSC Ensembl
Innerchr3:193888863..193892521hg19UCSC Ensembl
Outerchr3:193888627..193892798hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg383659
hg193659
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599191
Supporting Variants
SamplesHG02053
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11283699
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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