A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3439230



Internal ID15286183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184376036..184376080hg38UCSC Ensembl
Innerchr4:184376050..184376064hg38UCSC Ensembl
Outerchr4:184376020..184376096hg38UCSC Ensembl
chr4:185297190..185297234hg19UCSC Ensembl
Innerchr4:185297204..185297218hg19UCSC Ensembl
Outerchr4:185297174..185297250hg19UCSC Ensembl
chr4:185534184..185534228hg18UCSC Ensembl
Innerchr4:185534198..185534212hg18UCSC Ensembl
Outerchr4:185534168..185534244hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38193
hg19193
hg18193
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8922596, essv8922595
SamplesNA19138, NA18907
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3439230
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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