A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002546



Internal ID7067662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:111611045..111611045hg38UCSC Ensembl
chr13:112263392..112263392hg19UCSC Ensembl
chr13:111061393..111061393hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3569275
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002546
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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