A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598140



Internal ID6638405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149126696..149130593hg38UCSC Ensembl
Innerchr3:149126734..149130555hg38UCSC Ensembl
Outerchr3:149126658..149130631hg38UCSC Ensembl
chr3:148844483..148848380hg19UCSC Ensembl
Innerchr3:148844521..148848342hg19UCSC Ensembl
Outerchr3:148844445..148848418hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg383898
hg193898
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11179822, essv11179823
SamplesHG01104, NA20799
Known GenesHPS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598140
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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