A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560393



Internal ID18414783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:32078900..32082899hg38UCSC Ensembl
Outerchr1:32078400..32083399hg38UCSC Ensembl
Innerchr1:32544501..32548500hg19UCSC Ensembl
Outerchr1:32544001..32549000hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg385000
hg195000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759140
Samples
Known GenesTMEM39B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560393
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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