A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3365086



Internal ID15212063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:77129504..77129523hg38UCSC Ensembl
Innerchr4:77129500..77129527hg38UCSC Ensembl
Outerchr4:77129481..77129546hg38UCSC Ensembl
chr4:78050657..78050676hg19UCSC Ensembl
Innerchr4:78050653..78050680hg19UCSC Ensembl
Outerchr4:78050634..78050699hg19UCSC Ensembl
chr4:78269681..78269700hg18UCSC Ensembl
Innerchr4:78269704..78269677hg18UCSC Ensembl
Outerchr4:78269658..78269723hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8678898
SamplesNA19240
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3365086
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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