A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1750461



Internal ID12566893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:113453314..113453482hg38UCSC Ensembl
chr9:116215594..116215762hg19UCSC Ensembl
chr9:115255415..115255583hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38169
hg19169
hg18169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4109209
SamplesHuRef
Known GenesRGS3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1750461
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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