A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3753640



Internal ID11661544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8646027..8646027hg38UCSC Ensembl
chr16:8739884..8739884hg19UCSC Ensembl
chr16:8647385..8647385hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1322482
Supporting Variants
SamplesHuRef
Known GenesMETTL22
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3753640
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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