A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1696566



Internal ID1540461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51590918..51590918hg19UCSC Ensembl
chr12:49877185..49877185hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg19160
hg18160
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4330133
SamplesHuRef
Known GenesPOU6F1
Method
AnalysisRegion identical to calls - DGVa curated
PlatformSanger Sequencing
Comments
ReferenceLevy et al 2007
Pubmed ID17803354
Accession Number(s)esv1696566
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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