A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1512990



Internal ID12329426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46460550..46460550hg38UCSC Ensembl
chr13:47034685..47034685hg19UCSC Ensembl
chr13:45932686..45932686hg18UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3881
hg1981
hg1881
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3632934
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1512990
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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