A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4307215



Internal ID11243067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53149758..53149758hg38UCSC Ensembl
chr16:53183670..53183670hg19UCSC Ensembl
chr16:51741171..51741171hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38317
hg19317
hg18317
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1370771
Supporting Variants
SamplesHuRef
Known GenesCHD9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4307215
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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