A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2129462



Internal ID2544012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:129501175..129501226hg19UCSC Ensembl
Outerchr6:129501008..129501401hg19UCSC Ensembl
Innerchr6:129542868..129542919hg18UCSC Ensembl
Outerchr6:129542701..129543094hg18UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4720195
SamplesNA18507
Known GenesLAMA2
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2129462
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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