A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3376279



Internal ID14876544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184797104..184799302hg38UCSC Ensembl
Innerchr4:184798104..184798302hg38UCSC Ensembl
Outerchr4:184796104..184800302hg38UCSC Ensembl
chr4:185718258..185720456hg19UCSC Ensembl
Innerchr4:185719258..185719456hg19UCSC Ensembl
Outerchr4:185717258..185721456hg19UCSC Ensembl
chr4:185955252..185957450hg18UCSC Ensembl
Innerchr4:185956252..185956450hg18UCSC Ensembl
Outerchr4:185954252..185958450hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694291
SamplesNA19239
Known GenesACSL1, SLED1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3376279
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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