A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3564502



Internal ID18765578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:118322610..118325917hg38UCSC Ensembl
Outerchr4:118322513..118326020hg38UCSC Ensembl
Innerchr4:119243765..119247072hg19UCSC Ensembl
Outerchr4:119243668..119247175hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg383508
hg193508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9763249
Samples
Known GenesPRSS12
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3564502
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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