A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3417901



Internal ID15264859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184170305..184171903hg38UCSC Ensembl
Innerchr4:184170903..184171305hg38UCSC Ensembl
Outerchr4:184169305..184172903hg38UCSC Ensembl
chr4:185091458..185093056hg19UCSC Ensembl
Innerchr4:185092056..185092458hg19UCSC Ensembl
Outerchr4:185090458..185094056hg19UCSC Ensembl
chr4:185328452..185330050hg18UCSC Ensembl
Innerchr4:185329452..185329050hg18UCSC Ensembl
Outerchr4:185327452..185331050hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694285
SamplesNA19239
Known GenesENPP6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3417901
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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