A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595124



Internal ID6635398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:5138599..5176477hg38UCSC Ensembl
Innerchr3:5138599..5176477hg38UCSC Ensembl
Outerchr3:5138099..5176977hg38UCSC Ensembl
chr3:5180284..5218162hg19UCSC Ensembl
Innerchr3:5180284..5218162hg19UCSC Ensembl
Outerchr3:5179784..5218662hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3837879
hg1937879
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10905482
SamplesHG02184
Known GenesARL8B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595124
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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