A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2239902



Internal ID2627869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51590855..51591019hg19UCSC Ensembl
Outerchr12:51590726..51591108hg19UCSC Ensembl
Innerchr12:49877122..49877286hg18UCSC Ensembl
Outerchr12:49876993..49877375hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4602658
SamplesNA18507
Known GenesPOU6F1
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2239902
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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