A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606494



Internal ID6993430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119670577..119684701hg38UCSC Ensembl
Innerchr5:119670577..119684701hg38UCSC Ensembl
Outerchr5:119670077..119685201hg38UCSC Ensembl
chr5:119006272..119020396hg19UCSC Ensembl
Innerchr5:119006272..119020396hg19UCSC Ensembl
Outerchr5:119005772..119020896hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3814125
hg1914125
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12035209, essv12035211, essv12035207, essv12035210, essv12035212, essv12035208
SamplesNA19437, HG02508, HG01108, NA19096, HG03162, HG02947
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606494
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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