A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1990859



Internal ID2412746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:129608182..129608282hg19UCSC Ensembl
Outerchr6:129608048..129608446hg19UCSC Ensembl
Innerchr6:129649875..129649975hg18UCSC Ensembl
Outerchr6:129649741..129650139hg18UCSC 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 Variantsessv4971665
SamplesNA18507
Known GenesLAMA2
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina GA1 DNA Sequencer
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv1990859
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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