A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1370771



Internal ID12187207
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4307215
SamplesHuRef
Known GenesCHD9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1370771
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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