A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599206



Internal ID6986254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194581696..194583537hg38UCSC Ensembl
Innerchr3:194581743..194583490hg38UCSC Ensembl
Outerchr3:194581649..194583584hg38UCSC Ensembl
chr3:194302425..194304266hg19UCSC Ensembl
Innerchr3:194302472..194304219hg19UCSC Ensembl
Outerchr3:194302378..194304313hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381842
hg191842
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11283960, essv11283959
SamplesNA19443, HG03619
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599206
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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