A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3449928



Internal ID15296876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:94535836..94535854hg38UCSC Ensembl
Innerchr4:94535838..94535852hg38UCSC Ensembl
Outerchr4:94535834..94535856hg38UCSC Ensembl
chr4:95456987..95457005hg19UCSC Ensembl
Innerchr4:95456989..95457003hg19UCSC Ensembl
Outerchr4:95456985..95457007hg19UCSC Ensembl
chr4:95676010..95676028hg18UCSC Ensembl
Innerchr4:95676012..95676026hg18UCSC Ensembl
Outerchr4:95676008..95676030hg18UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864350
SamplesNA12005
Known GenesPDLIM5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3449928
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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