A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1352926



Internal ID12169362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1185683..1185683hg38UCSC Ensembl
chr16:1235683..1235683hg19UCSC Ensembl
chr16:1175684..1175684hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4270786
SamplesHuRef
Known GenesCACNA1H
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1352926
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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