A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598680



Internal ID6985815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172868876..172876426hg38UCSC Ensembl
Innerchr3:172868877..172876425hg38UCSC Ensembl
Outerchr3:172868875..172876427hg38UCSC Ensembl
chr3:172586666..172594216hg19UCSC Ensembl
Innerchr3:172586667..172594215hg19UCSC Ensembl
Outerchr3:172586665..172594217hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg387551
hg197551
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11228471, essv11228474, essv11228472, essv11228473
SamplesNA20808, NA19746, HG01325, HG00250
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598680
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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