A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1197500



Internal ID1610329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13941610..13941707hg19UCSC Ensembl
chr12:13832877..13832974hg18UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg1998
hg1898
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3954337
SamplesHuRef
Known GenesGRIN2B
Method
AnalysisRegion identical to calls - DGVa curated
PlatformSanger Sequencing
Comments
ReferenceLevy et al 2007
Pubmed ID17803354
Accession Number(s)esv1197500
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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