A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605765



Internal ID6992702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:90500571..90502166hg38UCSC Ensembl
Innerchr5:90500632..90502105hg38UCSC Ensembl
Outerchr5:90500510..90502227hg38UCSC Ensembl
chr5:89796388..89797983hg19UCSC Ensembl
Innerchr5:89796449..89797922hg19UCSC Ensembl
Outerchr5:89796327..89798044hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg381596
hg191596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11976390
SamplesHG01489
Known GenesPOLR3G
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605765
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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