A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9763091



Internal ID18390651
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 StatusS
Merged Variantsesv3564344
Supporting Variants
Samples
Known GenesPPP3CA
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9763091
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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