A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11283596



Internal ID1744410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194048953..194062594hg38UCSC Ensembl
Innerchr3:194048953..194062594hg38UCSC Ensembl
Outerchr3:194048453..194063094hg38UCSC Ensembl
chr3:193766742..193780383hg19UCSC Ensembl
Innerchr3:193766742..193780383hg19UCSC Ensembl
Outerchr3:193766242..193780883hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3813642
hg1913642
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599189
Supporting Variants
SamplesHG01612
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11283596
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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