A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1620907



Internal ID12437342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:77894364..77894364hg38UCSC Ensembl
chr9:80509280..80509280hg19UCSC Ensembl
chr9:79699100..79699100hg18UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg38111
hg19111
hg18111
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3861891
SamplesHuRef
Known GenesGNAQ
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1620907
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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