A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3563841



Internal ID18418231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:48716644..48719707hg38UCSC Ensembl
Outerchr4:48716137..48720221hg38UCSC Ensembl
Innerchr4:48718661..48721724hg19UCSC Ensembl
Outerchr4:48718154..48722238hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg384085
hg194085
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9762588
Samples
Known GenesFRYL
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3563841
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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