A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7316385



Internal ID10247981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8393302..8393462hg38UCSC Ensembl
chr4:8395029..8395189hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3046818
Supporting Variants
SamplesHuRef
Known GenesACOX3
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7316385
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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