A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2008419



Internal ID2392867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162151156..162151654hg19UCSC Ensembl
Outerchr6:162150991..162151804hg19UCSC Ensembl
Innerchr6:162071146..162071644hg18UCSC Ensembl
Outerchr6:162070981..162071794hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4715512
SamplesNA18507
Known GenesPARK2
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2008419
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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