A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1516082



Internal ID12332518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8393305..8393465hg38UCSC Ensembl
chr4:8395032..8395192hg19UCSC Ensembl
chr4:8445932..8446092hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38161
hg19161
hg18161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4143302
SamplesHuRef
Known GenesACOX3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1516082
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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