A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3540790



Internal ID18395180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152354997..152355191hg38UCSC Ensembl
Outerchr1:152354960..152355251hg38UCSC Ensembl
Innerchr1:152327473..152327667hg19UCSC Ensembl
Outerchr1:152327436..152327727hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9739537
Samples
Known GenesFLG2, FLG-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3540790
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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