A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9764597



Internal ID18738843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:40794522..40794812hg38UCSC Ensembl
Outerchr5:40794501..40794886hg38UCSC Ensembl
Innerchr5:40794624..40794914hg19UCSC Ensembl
Outerchr5:40794603..40794988hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38386
hg19386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3565850
Supporting Variants
Samples
Known GenesPRKAA1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9764597
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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