A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9755859



Internal ID18383419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:44355986..44356093hg38UCSC Ensembl
Outerchr20:44355983..44356110hg38UCSC Ensembl
Innerchr20:42984626..42984733hg19UCSC Ensembl
Outerchr20:42984623..42984750hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3557112
Supporting Variants
Samples
Known GenesHNF4A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9755859
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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