A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1320546



Internal ID12483668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133105841..133105901hg38UCSC Ensembl
chr9:135981228..135981288hg19UCSC Ensembl
chr9:134971049..134971109hg18UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3861
hg1961
hg1861
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4352414
SamplesHuRef
Known GenesRALGDS
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1320546
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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