A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597014



Internal ID6637284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:94083460..94086595hg38UCSC Ensembl
Innerchr3:94083472..94086584hg38UCSC Ensembl
Outerchr3:94083449..94086607hg38UCSC Ensembl
chr3:93802304..93805439hg19UCSC Ensembl
Innerchr3:93802316..93805428hg19UCSC Ensembl
Outerchr3:93802293..93805451hg19UCSC Ensembl
Cytoband3q11.1
Allele length
AssemblyAllele length
hg383136
hg193136
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11069705
SamplesNA20759
Known GenesNSUN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597014
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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