A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3564344



Internal ID18418734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:101039036..101040025hg38UCSC Ensembl
Outerchr4:101038937..101040112hg38UCSC Ensembl
Innerchr4:101960193..101961182hg19UCSC Ensembl
Outerchr4:101960094..101961269hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg381176
hg191176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9763091
Samples
Known GenesPPP3CA
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3564344
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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