A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3365745



Internal ID14866005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39408422..39408928hg38UCSC Ensembl
Innerchr4:39408422..39408928hg38UCSC Ensembl
Outerchr4:39408178..39409202hg38UCSC Ensembl
chr4:39410042..39410548hg19UCSC Ensembl
Innerchr4:39410042..39410548hg19UCSC Ensembl
Outerchr4:39409798..39410822hg19UCSC Ensembl
chr4:39086437..39086943hg18UCSC Ensembl
Innerchr4:39086437..39086943hg18UCSC Ensembl
Outerchr4:39086193..39087217hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38507
hg19507
hg18507
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652262
SamplesNA19240
Known GenesKLB, MIR1273H
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3365745
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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