A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1279948



Internal ID12443070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:109767990..109767990hg38UCSC Ensembl
chr9:112530270..112530270hg19UCSC Ensembl
chr9:111570091..111570091hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3876
hg1976
hg1876
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3929748
SamplesHuRef
Known GenesPALM2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1279948
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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