A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1043456



Internal ID1265593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32963615..32963930hg19UCSC Ensembl
chr12:32854882..32855197hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg19316
hg18316
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3751927
SamplesHuRef
Known GenesPKP2
Method
AnalysisRegion identical to calls - DGVa curated
PlatformSanger Sequencing
Comments
ReferenceLevy et al 2007
Pubmed ID17803354
Accession Number(s)esv1043456
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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