A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv476e215



Internal ID22785986
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 Variants
Supporting Variantsesv3559668, esv3544377
Samples
Known GenesGPIHBP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)dgv476e215
Frequency
Sample Size767
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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