A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599189



Internal ID6986237
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11283596
SamplesHG01612
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599189
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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