A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3563312



Internal ID18764388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:5833166..5833404hg38UCSC Ensembl
Outerchr4:5833136..5833466hg38UCSC Ensembl
Innerchr4:5834893..5835131hg19UCSC Ensembl
Outerchr4:5834863..5835193hg19UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv311e215
Supporting Variantsessv9762059
Samples
Known GenesCRMP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3563312
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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