A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9762508



Internal ID18736754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:41225799..41229521hg38UCSC Ensembl
Outerchr4:41225545..41230233hg38UCSC Ensembl
Innerchr4:41227816..41231538hg19UCSC Ensembl
Outerchr4:41227562..41232250hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg384689
hg194689
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3563761
Supporting Variants
Samples
Known GenesUCHL1-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9762508
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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