A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3555121



Internal ID18756197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:20919872..20920021hg38UCSC Ensembl
Outerchr1:20919866..20920027hg38UCSC Ensembl
Innerchr1:21246365..21246514hg19UCSC Ensembl
Outerchr1:21246359..21246520hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753868
Samples
Known GenesEIF4G3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3555121
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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