A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304006



Internal ID14804268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:154585438..154585439hg38UCSC Ensembl
Innerchr4:154585404..154585473hg38UCSC Ensembl
Outerchr4:154585403..154585474hg38UCSC Ensembl
chr4:155506590..155506591hg19UCSC Ensembl
Innerchr4:155506556..155506625hg19UCSC Ensembl
Outerchr4:155506555..155506626hg19UCSC Ensembl
chr4:155726040..155726041hg18UCSC Ensembl
Innerchr4:155726075..155726006hg18UCSC Ensembl
Outerchr4:155726005..155726076hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38234
hg19234
hg18234
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7760071, essv7744143, essv7756178
SamplesNA18870, NA18510, NA18501
Known GenesFGA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304006
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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