A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3375146



Internal ID15222121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184292005..184293803hg38UCSC Ensembl
Innerchr4:184292803..184293005hg38UCSC Ensembl
Outerchr4:184291005..184294803hg38UCSC Ensembl
chr4:185213158..185214956hg19UCSC Ensembl
Innerchr4:185213956..185214158hg19UCSC Ensembl
Outerchr4:185212158..185215956hg19UCSC Ensembl
chr4:185450152..185451950hg18UCSC Ensembl
Innerchr4:185451152..185450950hg18UCSC Ensembl
Outerchr4:185449152..185452950hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694289
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3375146
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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