A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599066



Internal ID6986114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:190176139..190178547hg38UCSC Ensembl
Innerchr3:190176144..190178542hg38UCSC Ensembl
Outerchr3:190176134..190178552hg38UCSC Ensembl
chr3:189893928..189896336hg19UCSC Ensembl
Innerchr3:189893933..189896331hg19UCSC Ensembl
Outerchr3:189893923..189896341hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg382409
hg192409
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11268663, essv11268664, essv11268665
SamplesHG03583, HG03391, HG03567
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599066
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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