A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3351562



Internal ID14851826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:78590778..78590797hg38UCSC Ensembl
Innerchr4:78590774..78590801hg38UCSC Ensembl
Outerchr4:78590755..78590820hg38UCSC Ensembl
chr4:79511932..79511951hg19UCSC Ensembl
Innerchr4:79511928..79511955hg19UCSC Ensembl
Outerchr4:79511909..79511974hg19UCSC Ensembl
chr4:79730956..79730975hg18UCSC Ensembl
Innerchr4:79730979..79730952hg18UCSC Ensembl
Outerchr4:79730933..79730998hg18UCSC Ensembl
Cytoband4q21.21
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 Variantsessv9616501
SamplesNA19141
Known GenesANXA3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3351562
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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