A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559668



Internal ID18760744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143213588..143213645hg38UCSC Ensembl
chr8:144295463..144295520hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv476e215
Supporting Variantsessv9758415
Samples
Known GenesGPIHBP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559668
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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