A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1728025



Internal ID12544457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89342073..89342073hg38UCSC Ensembl
chr16:89408481..89408481hg19UCSC Ensembl
chr16:87935982..87935982hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3890
hg1990
hg1890
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3912177
SamplesHuRef
Known GenesANKRD11
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1728025
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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