A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1752819



Internal ID12569251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89390088..89390088hg38UCSC Ensembl
chr16:89456496..89456496hg19UCSC Ensembl
chr16:87983997..87983997hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3894
hg1994
hg1894
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3925584
SamplesHuRef
Known GenesANKRD11
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1752819
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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